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Webbed neck

A webbed neck, also known as pterygium colli, is a congenital malformation characterized by excess folds of skin forming a web-like structure along the sides of the neck, typically extending from the mastoid process behind the ear to the acromion of the shoulder.^[1] This condition results from developmental anomalies in embryonic life, potentially linked to the incomplete regression of cystic hygromas or uneven growth between the skin and underlying structures.^[1] It is most frequently observed as a clinical feature in genetic disorders, including Turner syndrome—affecting approximately 1 in 2,000 to 2,500 female births—where about 30% of individuals present with extra neck skin folds and a low posterior hairline.^[2]^[3] Similarly, it appears in Noonan syndrome, which impacts 1 in 1,000 to 2,500 people regardless of sex, often alongside a short neck and low hairline due to mutations in genes like PTPN11.^[4] Less commonly, webbed neck occurs in Klippel-Feil syndrome, involving cervical vertebral fusion, or as an isolated trait.^[1] Diagnosis typically occurs at birth or infancy through physical examination, with imaging such as ultrasound or MRI used to assess associated anomalies like lymphatic malformations or skeletal issues.^[3] While the condition itself is benign, it can contribute to cosmetic concerns, restricted neck mobility, or secondary complications in syndromic cases, such as cardiovascular defects in Turner or Noonan syndromes.^[2]^[4] Management focuses on multidisciplinary care, including genetic counseling and monitoring for comorbidities, with surgical correction—such as Z-plasty or posterolateral resection techniques—offered for functional or aesthetic improvement, particularly when significant skin laxity is present.^[1]

Anatomy and Presentation

Physical Description

Webbed neck, medically termed pterygium colli, is a congenital anomaly defined by bilateral folds of excess skin extending laterally from the mastoid region behind the ears to the acromion at the shoulders, creating the appearance of a broad, short neck.^[5]^[6] These folds consist of redundant dermal tissue with an underlying ectopic fibrotic band superficial to the trapezius muscle, often resulting in a webbed or fused contour along the neck's sides.^[5]^[7] The skin involved is characteristically loose and folded, exhibiting a fibrotic texture that may include visible creases or a drooping quality, with hair-bearing tissue extending abnormally to form a low posterior hairline.^[8]^[5] This presentation is typically symmetric on both sides, though the extent of skin redundancy can vary.^[6]^[9] Severity ranges from mild cases with subtle lateral folds that minimally alter neck contour to severe manifestations featuring pronounced webbing that significantly shortens the visible neck length and mimics fusion of the cervical skin to the shoulders.^[9]^[10] In more pronounced forms, the fibrotic bands contribute to restricted lateral and rotational neck mobility, potentially influencing posture by limiting head turning and shoulder elevation.^[11]^[12]

Clinical Manifestations

Webbed neck, also known as pterygium colli, is a rare congenital anomaly that occurs more frequently in females due to its association with genetic syndromes such as Turner syndrome. Individuals with webbed neck often experience functional impairments stemming from the excess skin folds and underlying tissue bands that restrict neck movement. Limited neck rotation and extension can hinder daily activities such as turning the head while driving or looking over the shoulder, while difficulties in shoulder elevation may affect arm mobility and overhead reaching. These restrictions arise from the taut skin and fibrotic bands, potentially leading to chronic neck discomfort from muscle strain in severe cases.^[13]^[14] The cosmetic appearance of webbed neck can significantly impact quality of life, particularly during adolescence when body image concerns intensify. Individuals may face psychosocial effects such as lowered self-esteem, social withdrawal, and anxiety related to peer ridicule or perceived differences, leading to avoidance of activities that highlight the neck. Surgical correction is sometimes pursued to alleviate these emotional burdens alongside functional improvements.^[15]^[16] Although webbed neck can manifest independently in rare cases, it is often a feature of genetic syndromes (see Associated Conditions).

Causes and Pathophysiology

Embryological Origins

During weeks 4 to 8 of gestation, the neck develops through the coordinated formation of the branchial arches and integration with cervical somites. The branchial arches, numbering six pairs, emerge as mesodermal elevations covered by ectoderm and lined by endoderm from the pharyngeal pouches; they are populated by migrating neural crest cells that contribute to connective tissue, cartilage, and skeletal elements. Arches 1 through 4 are most prominent in the neck region, while the fifth involutes early. The cervical somites, derived from paraxial mesoderm, segment into sclerotomes for vertebral bodies and myotomes for neck musculature, ensuring the structural foundation of the neck.^[17] Normal separation of the branchial arches and somites involves precise resorption of intervening mesenchymal tissue through programmed cell death (apoptosis), which sculpts the neck's contour by eliminating excess cells between weeks 5 and 7. The second branchial arch plays a key role by growing caudally to overlap the third and fourth arches, burying the intervening clefts (second through fourth) into the temporary cervical sinus of His; the mesenchymal core of this sinus undergoes degeneration, allowing the arches to fuse seamlessly with the somites and form a smooth lateral neck profile. Neural crest cells facilitate this process by providing signaling cues for tissue remodeling and arch patterning.^[18] In webbed neck (pterygium colli), the pathological process stems from incomplete resorption of this mesenchymal tissue, resulting in persistent bilateral folds of skin and subcutaneous tissue extending from the mastoid process to the acromion. This failure disrupts the normal separation of branchial arch derivatives from cervical somites, leaving fibrotic bands that tether the head to the shoulders.^[19] Lymphatic malformations contribute in certain cases, arising from defective development of the primitive lymphatic sacs between weeks 5 and 6, when lymphatics bud from jugular veins and fail to connect properly to the venous system. This leads to cystic hygroma colli, a fluid-filled mass in the nuchal region; partial in utero resolution of the hygroma causes fibrosis and redundant skin folds characteristic of the web, as the excess tissue does not fully regress.^[20] Key embryological stages include the prominence of second branchial arch remnants in colli formation, where inadequate burial of the cervical sinus or disrupted mesenchymal degeneration prevents proper neck elongation. Impaired neural crest cell migration into the arches can further exacerbate this by altering tissue patterning and reducing apoptotic signals needed for resorption.^[18] Classic 20th-century studies on congenital neck anomalies, such as those by Kobylinski (1883) describing the deformity and later works like Feil's 1919 analysis of associated skeletal fusions, established models emphasizing disrupted branchial field development and mesenchymal persistence as central to pterygium colli etiology. Mid-century investigations, including endocrinological correlations in 1956, reinforced the role of early embryonic tissue failures without resolving the precise triggers.^[21]80022-6/fulltext)

Genetic and Environmental Factors

The webbed neck, or pterygium colli, is most frequently associated with chromosomal abnormalities, particularly monosomy X (45,X karyotype) in Turner syndrome, where it manifests in approximately 30% of affected individuals due to the partial or complete absence of one X chromosome.^[2] This genetic alteration disrupts normal lymphatic and connective tissue development, leading to the characteristic skin folds. In Turner syndrome cases, the condition often results from nondisjunction during gametogenesis, with no significant contribution from advanced parental age.^[22] Beyond Turner syndrome, webbed neck occurs in other genetic disorders, including Noonan syndrome, which follows an autosomal dominant inheritance pattern caused by mutations in genes such as PTPN11 (accounting for about 50% of cases), SOS1, or RAF1, leading to RAS/MAPK pathway dysregulation.^[23] These mutations result in a phenotype that includes webbed neck in up to 40% of patients, alongside other features like short stature and cardiac anomalies. Rare familial cases of isolated webbed neck have been reported with autosomal dominant transmission, though the specific genes involved remain unidentified in most instances, and the etiology is often linked to nonspecific lymphatic obstruction during early development.^[8] Chromosomal variants, such as those in Klippel-Feil syndrome (involving GDF6 or GDF3 mutations), can also present with webbed neck secondary to vertebral fusion and soft tissue anomalies.^[13] Environmental contributors to webbed neck are less well-defined and primarily inferred from associations with intrauterine factors rather than direct teratogenic exposures. Limited evidence suggests that mechanical constraints, such as those from unresolved cystic hygromas or lymphatic malformations in utero, may promote the formation of fibrotic skin bands postnatally, though this is more commonly observed in syndromic contexts like Turner or Noonan syndromes.^[8] Maternal exposure to certain teratogens, including alcohol or medications during early gestation, has been hypothesized to influence congenital neck anomalies through vascular or lymphatic disruption, but specific links to isolated webbed neck lack robust epidemiological support and account for only a small fraction of cases overall.^[13] Advanced maternal age does not appear to significantly elevate risk for webbed neck in primary associations like Turner syndrome, whereas advanced paternal age may correlate with increased incidence in Noonan syndrome variants.^[22]^[24] No direct evidence implicates endocrine disruptors in webbed neck etiology based on current studies.^[13]

Associated Conditions

Turner Syndrome

Turner syndrome is a chromosomal disorder that primarily affects females, resulting from the partial or complete absence of one X chromosome, most commonly presenting as a 45,X karyotype or mosaicism involving 45,X cell lines. This condition leads to a variety of physical and developmental features, with webbed neck occurring in approximately 30% of affected individuals, characterized by extra folds of skin extending from the neck to the shoulders. The syndrome arises due to haploinsufficiency of genes on the X chromosome, impacting growth, ovarian function, and other systems, and it exclusively affects those with a female phenotype.^[2]^[22] In individuals with Turner syndrome, webbed neck often appears alongside other hallmark manifestations, including short stature (typically below the third percentile for age), gonadal dysgenesis leading to primary ovarian insufficiency and infertility, and cardiac anomalies such as bicuspid aortic valve or coarctation of the aorta. These features can vary in severity depending on the extent of mosaicism, with non-mosaic 45,X cases more frequently exhibiting pronounced physical stigmata like webbed neck. Diagnosis is confirmed through karyotype analysis, which examines at least 30 cells to detect the chromosomal abnormality, often prompted by prenatal findings or postnatal clinical signs such as growth failure or neck webbing.^[25]^[22]^[26] The presence of webbed neck in Turner syndrome is associated with an elevated risk of certain comorbidities, including aortic coarctation (affecting up to 11% of cases overall, but higher in those with classic features) and hypothyroidism due to autoimmune thyroiditis (prevalence around 30% in Turner syndrome). These risks underscore the need for early screening, as cardiac issues can lead to hypertension and dissection, while thyroid dysfunction impacts metabolism and growth. Epidemiologically, Turner syndrome has an incidence of approximately 1 in 2,500 live female births, and webbed neck serves as an important early clinical indicator, often noticeable in infancy as residual lymphedema resolves into skin folds. With multidisciplinary management, life expectancy approaches that of the general population, though vigilant monitoring for these associated conditions is essential.^[27]^[22]^[22]

Other Genetic Syndromes

Noonan syndrome, part of the group of disorders known as RASopathies, arises from mutations in genes involved in the RAS/MAPK signaling pathway, with mutations in the PTPN11 gene accounting for approximately 50% of cases.^[28] Webbed neck, or pterygium colli, occurs in about 10-20% of affected individuals, frequently co-occurring with pulmonic stenosis (seen in 25-71% of cases) and facial dysmorphisms such as hypertelorism, ptosis, and low-set posteriorly rotated ears.^[29] These neck abnormalities often stem from lymphatic dysplasia and may present with excess nuchal skin or a low posterior hairline, contributing to the short neck appearance characteristic of the syndrome.^[30] Klippel-Feil syndrome involves congenital fusion of two or more cervical vertebrae, leading to a short neck with limited range of motion, and is associated with webbed neck in many cases due to disruptions in genes regulating vertebral segmentation, including those in the Hox gene family.^[31] Inheritance is typically autosomal dominant, though sporadic cases predominate, and additional features may include Sprengel deformity (elevated scapula) or hearing loss, distinguishing it from other causes of neck webbing through its emphasis on skeletal anomalies.^[32] Rarer associations with webbed neck include other RASopathies such as LEOPARD syndrome (characterized by PTPN11 or RAF1 mutations) and cardiofaciocutaneous syndrome (often due to BRAF or MAP2K1 mutations), where neck webbing appears milder and less frequent than in Noonan syndrome, alongside multiple lentigines, electrocardiographic abnormalities, or ectodermal features like sparse curly hair.^[33] These conditions highlight overlapping RAS pathway dysregulation but differ in their dermatologic and ocular manifestations.

Diagnosis and Evaluation

Diagnostic Methods

Prenatal diagnosis of webbed neck often begins with first-trimester ultrasound screening for increased nuchal translucency (NT), a measurement of subcutaneous fluid accumulation at the back of the fetal neck performed between 11 and 13 weeks and 6 days of gestation. An NT measurement exceeding 3.5 mm is associated with a higher risk of congenital anomalies, including cystic hygroma, which may resolve in utero but result in postnatal webbed neck due to residual skin folds. The American College of Obstetricians and Gynecologists (ACOG) recommends NT ultrasound as a component of aneuploidy screening for all pregnancies, with combined testing (NT plus serum markers) or cell-free DNA (cfDNA) screening—also known as non-invasive prenatal testing (NIPT)—providing risk assessment for chromosomal abnormalities such as monosomy X in Turner syndrome.^[34] In high-risk pregnancies—such as those with advanced maternal age, family history of genetic disorders, or prior affected offspring—ACOG guidelines advocate for detailed anomaly scans, including targeted evaluation of nuchal folds, to detect structural abnormalities like increased NT or cystic hygroma. If ultrasound or NIPT reveals suspicious findings, invasive diagnostic procedures such as amniocentesis are recommended around 15-20 weeks to obtain fetal cells for karyotyping, enabling confirmation of chromosomal anomalies like 45,X monosomy in Turner syndrome.^[34]^[35] Postnatal evaluation starts with a comprehensive physical examination of the newborn, focusing on dysmorphic features such as short stature, low posterior hairline, and bilateral skin folds extending from the neck to the shoulders, which characterize webbed neck (pterygium colli). Standardized dysmorphology assessments, involving systematic inspection of head, neck, and limb proportions, help identify associated minor anomalies and guide syndrome suspicion, often performed by pediatric geneticists or neonatologists. For cases involving potential lymphatic malformations underlying the webbed appearance, magnetic resonance imaging (MRI) is utilized to delineate soft tissue involvement, assess vascular extensions, and evaluate for residual cystic structures, providing superior multiplanar visualization compared to ultrasound.^[36]^[37]^[38]^[39] Genetic testing protocols are essential for confirming etiology, beginning with chromosomal analysis via karyotyping to detect aneuploidies like monosomy X in Turner syndrome, a common feature in affected individuals. Fluorescence in situ hybridization (FISH) serves as a rapid targeted test for X chromosome abnormalities, while array comparative genomic hybridization (array CGH) identifies submicroscopic copy number variations with higher resolution than traditional karyotyping. For suspected monogenic causes, such as Noonan syndrome, multigene panel sequencing or whole-exome sequencing is employed to detect mutations in RAS/MAPK pathway genes (e.g., PTPN11), confirming diagnosis in approximately 70% of cases. These tests are prioritized based on clinical features, with ACOG emphasizing informed counseling prior to invasive or genetic procedures in both prenatal and postnatal settings.^[40]^[41]^[28]^[34]

Differential Diagnosis

The differential diagnosis of webbed neck (pterygium colli) includes several congenital and acquired conditions that can present with similar neck skin folds, asymmetry, or contractures, necessitating careful clinical evaluation to distinguish them.^[42] Lymphatic malformations, such as cystic hygroma, often manifest prenatally as nuchal fluid collections that may resolve after birth, leaving residual skin webbing due to excess tissue. These are typically identified via prenatal ultrasound showing cystic structures, with postnatal confirmation using Doppler ultrasound to assess vascular flow and rule out persistence of the malformation.^[35]^[42] Congenital torticollis, resulting from sternocleidomastoid muscle fibrosis or shortening, can produce unilateral neck asymmetry that mimics webbed appearance through apparent skin redundancy and head tilt. Differentiation relies on MRI imaging, which reveals involvement of the sternocleidomastoid muscle without the bilateral fibrotic bands characteristic of true pterygium colli.^[43]^[44] Acquired causes, including post-surgical scarring from neck procedures (e.g., lymph node dissection) or radiation-induced fibrosis in head and neck cancer survivors, lead to progressive skin contracture and webbing-like deformities over time. These are distinguished by a history of iatrogenic intervention or oncologic treatment, often with imaging showing fibrotic changes confined to irradiated or operated fields.^[45] Key differentiators across these conditions include the timing of onset—congenital presentations evident at birth versus acquired developments later in life—and the absence of associated genetic markers, such as X-chromosome abnormalities, in isolated non-syndromic cases of webbed neck.^[42]

Treatment and Management

Surgical Interventions

Surgical interventions for webbed neck, or pterygium colli, primarily involve excisional techniques to release the skin webs and restore normal cervical contour. The most common procedures are Z-plasty and W-plasty, which involve multiple incisions to redistribute excess skin and break up the webbing, often combined with adjustment of the underlying platysma muscle to improve neck mobility and appearance. These lateral approaches allow for precise correction while minimizing visible scarring, with Z-plasty being the most frequently reported method across case series, applied in approximately 63% of documented repairs.^[46] Surgery is typically indicated for cosmetic improvement and functional benefits, such as enhanced range of motion, and is generally performed after the age of 5-10 years to allow for natural growth and reduce risks in younger patients. Mean operative age in reviewed cases ranges from 10 to 10.7 years, with indications extending up to adolescence or adulthood in severe deformities. Preoperative evaluation may include lymphatic mapping in cases associated with syndromes prone to lymphedema, such as Turner syndrome, to identify potential drainage issues and guide incision placement.^[47]^[21]^[8] Outcomes of these procedures demonstrate high satisfaction rates, with improved aesthetic appearance and hairline normalization achieved in the majority of patients; for instance, in a series of 11 cases, no infections occurred, and functional improvements were noted without major morbidity. Success rates for cosmetic enhancement are reported as satisfactory in 80-90% of interventions based on long-term follow-up, though quantitative data vary by technique. Complications occur in 10-15% to 36% of cases, including hypertrophic scarring and mild recurrence of webbing, with scarring managed through scar revision if needed. Recent advances as of 2025 include modifications to the posterior cervical lift technique for improved correction and a 2024 narrative review emphasizing technique selection for optimal aesthetic results using classification systems.^[47]^[46]^[48]^[6] For severe cases with significant skin shortage, advanced techniques such as tissue expansion using subcutaneous implants are employed to generate additional local tissue prior to definitive repair, enabling better contour restoration without excessive tension. This method has shown successful outcomes in isolated reports for syndromic webbed neck. Historically, surgical approaches evolved from radical excisions in the 1950s, such as those described by Schröder in 1958, to modern minimally invasive methods like the posterior cervical lift, which prioritize scar concealment and reduced recurrence through posterior incisions and flap rearrangements.^[49]^[50]^[51]

Multidisciplinary Care

Multidisciplinary care for webbed neck, often associated with Turner syndrome, involves coordinated efforts among healthcare professionals including endocrinologists, cardiologists, physical therapists, psychologists, and primary care providers to address non-surgical needs and promote long-term well-being.^[52] This approach emphasizes preventive monitoring, supportive therapies, and lifestyle adjustments to manage associated complications such as lymphedema, restricted mobility, and psychosocial challenges.^[53] Physical therapy protocols focus on stretching exercises to enhance neck range of motion and prevent contractures in the webbed skin folds. Common interventions include the neck tilt stretch, where the head is gently tilted toward one shoulder and held for 15-30 seconds per side, repeated 2-3 times daily; chin tucks, involving retracting the chin toward the chest for 5 seconds and repeating 10 times twice daily; and sternocleidomastoid stretches, pulling gently under the collarbone while tilting the head back and to the opposite side for 15-30 seconds per side.^[54] These exercises, supervised by a therapist, also incorporate strengthening techniques like shoulder shrugs to improve posture and reduce tightness, particularly beneficial for lymphedema-related webbing in Turner syndrome.^[12] Early intervention in childhood can mitigate motor delays and support overall physical development.^[53] Psychological support is essential, particularly for pediatric patients with syndromes like Turner, where webbed neck can contribute to body image disturbances and low self-esteem. Counseling addresses concerns related to physical differences, infertility, and social isolation, with neuropsychological evaluations recommended at ages 5-11 to identify needs for behavioral therapy or coping strategies.^[55] Support groups and individual therapy help foster resilience and positive self-perception, improving quality of life outcomes in affected individuals.^[56] Monitoring guidelines for patients with webbed neck, especially those with Turner syndrome, include regular endocrine assessments such as annual thyroid function tests and puberty hormone evaluations (e.g., FSH and estradiol starting at age 9) to detect issues like hypothyroidism or ovarian failure early.^[52] Cardiac follow-ups are critical, involving echocardiography at diagnosis and every 3-5 years thereafter, plus annual blood pressure checks from age 10, given the elevated risk of aortic anomalies in those with webbed neck.^[53] Integration of hormone therapy, such as growth hormone from early childhood and transdermal estrogen starting at ages 11-12, supports growth, puberty induction, and bone health while coordinating with vaccination schedules, including HPV immunization to prevent cervical risks.^[52] Lifestyle recommendations prioritize maintaining proper posture to reduce strain on the webbed tissue.^[12] Patients are advised to adopt a balanced diet, regular weight-bearing exercises for bone density, and avoidance of high-impact activities that could exacerbate skin strain or lymphedema, while targeting a BMI under 25 kg/m² to mitigate cardiometabolic risks.^[53] These measures, combined with multidisciplinary oversight, can significantly enhance functional outcomes without relying solely on surgical adjuncts.^[52]

History and Research

Historical Context

The recognition of webbed neck, medically termed pterygium colli, emerged in the late 19th century as a distinct congenital anomaly. In 1883, Estonian medical student Oskar Kobyliński published the earliest detailed account in Archiv für Anthropologie, describing the condition in a 19-year-old man as "flüghautige Verbreitung des Halses" (wing-like extension of the neck), noting the bilateral skin folds extending from the mastoid process to the shoulders alongside short stature and other features. This description marked the initial medical documentation, drawing from earlier folklore references to "winged neck" deformities in affected individuals.^[57] By the early 20th century, the condition gained further classification. In 1902, German surgeon Otto Funke formalized the term "pterygium colli" in Deutsche Zeitschrift für Chirurgie, emphasizing its congenital nature and potential surgical implications based on anatomical observations.^[58] This nomenclature shift from descriptive folklore terms to precise medical terminology facilitated broader clinical recognition, particularly in pediatric cases. Key advancements in the 1930s linked webbed neck to systemic disorders before chromosomal testing existed. German pediatrician Otto Ullrich reported in 1930 on young girls exhibiting neck webbing with dwarfism, sexual infantilism, and skeletal anomalies, interpreting it as a gonadal dysgenesis syndrome in the pre-karyotyping era.^[22] Independently, American endocrinologist Henry H. Turner described in 1938 a similar constellation in seven adolescent females, including prominent webbed neck, short stature, and cubitus valgus, establishing what became known as Turner syndrome (or Ullrich-Turner syndrome).^[59] Post-World War II developments standardized terminology amid growing genetic understanding. Following the 1959 discovery of the 45,X karyotype in Turner syndrome by Ford and colleagues, "webbed neck" and "pterygium colli" became entrenched in medical literature as hallmark features, transitioning from isolated anomaly descriptions to syndrome-associated traits.^[60]

Current Research Directions

Recent genetic research on webbed neck, or pterygium colli, has focused on its association with RASopathies such as Noonan syndrome, where mutations in genes like PTPN11 contribute to lymphatic maldevelopment leading to nuchal edema and subsequent webbing. Although genome-wide association studies (GWAS) specifically for non-syndromic cases remain scarce due to the condition's rarity, broader genomic analyses in syndromic cohorts have identified variants in lymphatic regulators, emphasizing the role of disrupted vascular endothelial growth factor signaling in cervical lymphatic anomalies.^[61] CRISPR-based models have been employed to investigate lymphatic development, with studies creating mouse models of primary lymphedema to mimic human congenital defects, including those manifesting as neck webbing; these models highlight the importance of distinguishing lymphatic phenotypes from vascular ones for targeted interventions.^[62] Therapeutic innovations are exploring regenerative approaches beyond traditional surgery, including stem cell therapies for lymphatic malformations that could potentially address tissue excess in webbed neck by promoting vascular regeneration, though clinical applications remain preclinical. Post-2020 initiatives in gene therapy for RASopathies have advanced, with CRISPR-Cas9 editing used to correct intronic mutations in LZTR1 in preclinical Noonan syndrome models, aiming to mitigate hypertrophic cardiomyopathy; the 8th International RASopathies Symposium in 2023 highlighted iPSC-derived models for testing such therapies on neural and cardiac tissues, with implications for multi-system anomalies.^[63]^[64] As of 2025, surgical advancements include modified posterior cervical lift techniques for severe webbed neck deformities, offering enhanced reconstructive outcomes.^[51] Epidemiological research reveals significant gaps, particularly in understudied populations in developing countries where access to genetic screening limits data on prevalence and syndromic associations; the condition's estimated occurrence in approximately 30% of Turner syndrome cases underscores the need for global registries.^[2] Longitudinal studies on post-surgical outcomes are emerging but limited, with recent case series reporting improved aesthetic and functional results from techniques like modified Z-plasty, yet long-term data on recurrence and psychosocial impacts are lacking.^[65] A 2024 narrative review in Facial Plastic Surgery synthesized lateral approach techniques for pterygium colli, advocating for algorithm-based decision-making to optimize outcomes.^[6]

References

[1]
Surgical Management of Pterygium Colli with Significant Skin Laxity
Mar 22, 2023 · Pterygium colli or “webbed neck” is a congenital malformation corresponding to a “web” of skin that may extend from the mastoid to the acromion.
[2]
Turner syndrome: MedlinePlus Genetics
Aug 1, 2023 · About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck ), a low hairline at the back of the neck ...
[3]
Turner syndrome - Symptoms & causes - Mayo Clinic
At birth or during infancy. Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck. Low-set ears.
[4]
Noonan syndrome: MedlinePlus Genetics
Jun 1, 2018 · Many children with Noonan syndrome have a short neck , and both children and adults may have excess neck skin (also called webbing) and a low ...
[5]
https://www.ncbi.nlm.nih.gov/medgen/113154
[6]
Pterygium Colli: A Narrative Review with a Comparative Study of ...
Nov 6, 2024 · Pterygium colli or webbed neck is a congenital deformity mainly found in Turner syndrome. It appears as a bilateral triangular fold extending from the mastoid ...
[7]
Surgical Management of Pterygium Colli with Significant Skin Laxity
Mar 22, 2023 · Pterygium colli or “webbed neck” is a congenital malformation corresponding to a “web” of skin that may extend from the mastoid to the acromion.
[8]
Entry - 177990 - PTERYGIUM COLLI, ISOLATED - (OMIM.ORG)
The mother had webbing of the neck with low hair line posteriorly, and photographs revealed a webbed neck in otherwise normal maternal relatives of the ...
[9]
Pterygium Colli: A Narrative Review with a Comparative Study of ...
Pterygium colli is characterized by bilateral webbing of the neck extending from the mastoid to the acromion. There is a broad variation in aetiology, very ...
[10]
Modified “Posterior Cervical Lift” Correction of Webbed Neck Deformity
Apr 23, 2025 · It is characterized by bilateral dermal webbing of the neck extending from the mastoid region to the acromion. The anterior surface of the web ...
[11]
[PDF] Case report Surgical Correction of Webbed Neck using Modified Z
The neck malformation was characterized by a thick fibrous band limiting rotational head movements and, consequently, the ability to wear certain clothing.
[12]
Pterygium Colli: What It Is, Symptoms, and Treatment
Pterygium colli, also known as webbed neck, is a condition characterized by excess skin folds on the sides of the neck, often extending to the shoulders.
[13]
Webbed Neck - an overview | ScienceDirect Topics
Webbed neck refers to a physical condition characterized by the presence of a pterygium colli, where the skin of the neck is fused and appears web-like. This ...
[14]
Turner Syndrome - OpenAnesthesia
Apr 29, 2025 · Klippel-Feil anomaly: Cervical vertebral fusion causing limited neck mobility, impacting airway management and neuraxial anesthesia; Short ...
[15]
What are the symptoms of Turner syndrome? | NICHD
Nov 23, 2021 · Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and ...Missing: mobility | Show results with:mobility
[16]
Adult women with Turner syndrome: A systematic evaluation of ...
Short stature and dysmorphic features such as webbing of the neck are often thought to contribute to poor self-esteem in children with TS [16]. Approximately 40 ...
[17]
The Effects of Peer Ridicule on Depression and Self- Image Among ...
Thus, Turner youth who possess obvious physical anomalies such as webbing of the neck may avoid social situations with peers owing to the their body image ...Missing: impact | Show results with:impact
[18]
Embryology, Branchial Arches - StatPearls - NCBI Bookshelf - NIH
The branchial arches are embryologic structures that develop into anatomic structures in the adult human. The term “branchial” derives from the Latin ...Missing: pterygium colli webbed
[19]
The Neck, Pharynx, and Trachea - Obgyn Key
Jan 4, 2019 · This process involves caudal growth of the second branchial arch, which overlaps the third and fourth clefts. ... pterygium colli (skin web).
[20]
Webbed Neck - an overview | ScienceDirect Topics
Congenital webs (pterygia) are most commonly found in the neck (pterygium colli). In the neck, thick folds of skin and subcutaneous tissue extend from the ...Missing: origins | Show results with:origins
[21]
Cystic Hygroma - an overview | ScienceDirect Topics
Some cases of congenital cystic hygroma resolve, leading to webbed neck, edema, and a lymphangioma. In other cases the hygroma can progress in size to become ...
[22]
The “Posterior Cervical Lift”: A New Approach to Pterygium Colli ...
Pterygium colli (webbed neck) is a congenital deformity of unknown origin that was first described in 1883 by Kobylinski. The prominence of the skin fold ...
[23]
Turner Syndrome - StatPearls - NCBI Bookshelf - NIH
Jun 22, 2025 · Turner syndrome is a chromosomal disorder characterized by the partial or complete deletion of one X chromosome in individuals with a typically female ...Missing: FOXL2 HOXD
[24]
Noonan Syndrome - Symptoms, Causes, Treatment | NORD
Aug 21, 2019 · In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline ...Missing: clavicles | Show results with:clavicles
[25]
Molecular and environmental characterization of Noonan syndrome ...
Feb 18, 2020 · These findings confirm, on the one hand, the association of advanced paternal age to higher risk of Noonan syndrome occurrence among offspring ...
[26]
Turner Syndrome - Pediatrics - Merck Manual Professional Edition
Jul 12, 2022 · Manifestations vary, but short stature, webbed neck, broad chest, gonadal dysgenesis, and cardiac anomalies (commonly coarctation of the ...
[27]
Turner syndrome - Diagnosis & treatment - Mayo Clinic
However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis.
[28]
Cardiovascular abnormalities in Turner's syndrome: What prevention?
These abnormalities are mostly left heart obstructions, the most common of which are bicuspid aortic valve (16%) and coarctation of the aorta (11%). Dilatations ...
[29]
Noonan Syndrome - GeneReviews® - NCBI Bookshelf - NIH
Nov 15, 2001 · Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, ...Summary · Diagnosis · Clinical Characteristics · Management
[30]
New insights on Noonan syndrome's clinical phenotype
Dec 24, 2022 · On the other hand, NSL-AH is caused by mutations in a different gene, SHOC2 [26]. ... Pterygium colli was present in 6 patients (19%). Short ...Missing: FOXL2 HOXD
[31]
Noonan syndrome | Orphanet Journal of Rare Diseases | Full Text
Jan 14, 2007 · In the adolescent and young adult, the eyes are less prominent and the neck appears less short. Sometimes there is marked webbing or prominent ...Abstract · Clinical Description · Characteristic Facial...<|control11|><|separator|>
[32]
Klippel-Feil syndrome | MedLink Neurology
Several genes (GDF3, GDF6, MEOX1, HOX, SGM1, PAX 1, and RIPPLY2) have been identified; the search for other candidate genes is ongoing. • On occasion, Klippel- ...
[33]
Klippel-Feil Syndrome: Practice Essentials, Anatomy, Etiology
May 11, 2023 · Klippel-Feil syndrome (KFS; also referred to as cervical vertebral fusion syndrome) is a congenital bone disorder characterized by the abnormal fusion of two ...Practice Essentials · Anatomy · Etiology · EpidemiologyMissing: Hox | Show results with:Hox
[34]
Cardiofaciocutaneous Syndrome - GeneReviews® - NCBI Bookshelf
Jan 18, 2007 · Cardiofaciocutaneous (CFC) syndrome is one the RASopathies: a group of syndromes ... Other findings can include broad or webbed neck, unusual ...
[35]
The Associations of Nuchal Translucency and Fetal Abnormalities
When an enlarged NT or small cystic hygroma resolves before birth, the infant may be left with a webbed neck. Clark [41] and Lacro [42] reported a strong ...
[36]
Screening for Fetal Chromosomal Abnormalities - ACOG
Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal ...Missing: high- | Show results with:high-
[37]
EVALUATION AND DIAGNOSIS OF THE DYSMORPHIC INFANT
The purpose of this article is review the dysmorphology examination with particular attention to anomalies that are readily apparent in the neonatal period.
[38]
Dysmorphology assessment in neonates - Safer Care Victoria
A dysmorphology assessment of a newborn focuses on aspects of history, physical examination and investigations that may lead to a syndrome diagnosis.
[39]
Lymphatic Malformation | Johns Hopkins Medicine
If your doctor is concerned that you may have an LM, it is common to order an MRI, which is a scan or picture of the inside of the body. This will help to show ...
[40]
Lymphatic malformations | Radiology Reference Article
May 2, 2008 · Lymphatic malformations are benign lesions of vascular origin that show lymphatic differentiation. Specifically, they are vascular malformations and not ...On This Page · Pathology · Radiographic Features
[41]
Turner syndrome (chromosome X monosomy) - Breda Genetics srl
May 28, 2021 · The diagnosis is suspected from the clinical picture and is confirmed by cytological investigation (karyotype, FISH or array-CGH).
[42]
Array-Based Comparative Genomic Hybridization Analysis in ...
Array-based comparative genomic hybridization (aCGH) can detect copy number variations (CNVs) in the whole genome at higher resolution than conventional ...
[43]
Pterygium Syndrome - StatPearls - NCBI Bookshelf
May 20, 2023 · Pterygium syndrome, also known as multiple pterygium syndrome, is a rare congenital disorder that primarily affects neuromuscular and skeletal functions.
[44]
Torticollis: Background, Pathophysiology, Etiology
Jan 4, 2024 · Other causes of congenital torticollis include postural torticollis, pterygium colli (webbed neck), SCM cysts, vertebral anomalies, odontoid ...Missing: differential | Show results with:differential
[45]
Congenital Torticollis - StatPearls - NCBI Bookshelf - NIH
Mar 20, 2024 · Torticollis, also known as twisted or wry neck, manifests as the contraction or contracture of neck muscles, resulting in head tilting, chin rotation, and ...Missing: webbed | Show results with:webbed
[46]
Radiation-Induced Fibrosis in Patients with Head and Neck Cancer
Jan 30, 2022 · Radiation may also cause dystonia and spasms of the neck musculature. This can lead to contracture and fixed neck positions, or weakness and ...Missing: webbed | Show results with:webbed
[47]
Surgical Techniques for the Repair of Webbed Neck: A Scoping ...
Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the ...Missing: rates | Show results with:rates
[48]
Surgical correction of pterygium colli - PubMed
No postoperative wound infections occurred. Mild recurrence of webbing was found in one case. In four patients we found mild to moderate hypertrophic scarring.Missing: timing | Show results with:timing
[49]
Treatment of Webbed Neck in Turner's Syndrome with Tissue... - LWW
We describe a successful approach to the management of the webbed neck deformity in Turner's syndrome using skin expansion. This case report demonstrates ...
[50]
Pterygium colli: surgical treatment - jpras
The syndrome incidence is 1: 3000 (Vaughan and. McKay, 1975). In 50% of the cases the genotype is. 45 xo; in 25% it is a mosaic 46 xx, 45 xo; in the last.Missing: prevalence | Show results with:prevalence
[51]
Modified “Posterior Cervical Lift” Correction of Webbed Neck Deformity
Apr 23, 2025 · Pterygium colli (webbed neck) is a rare congenital deformity that continues to pose reconstructive challenges for the plastic surgeon.Missing: acquired radiation
[52]
Turner Syndrome: Diagnosis and Management - AAFP
Aug 1, 2007 · Turner syndrome is diagnosed in females with partial or complete absence of one X chromosome (45,X karyotype). Clinical manifestations vary and may be subtle.
[53]
[PDF] Clinical Care in Turner Syndrome - Pediatric Endocrine Society
Those with 45,X karyotype or webbed neck are more likely to have heart or blood vessel problems. ... A healthy diet and regular exercise are recommended.
[54]
Neck Webbing Causes and Solutions | Acibadem Health Point
Effective Neck Webbing Stretches · Neck Tilt Stretch: Sit or stand with your back straight. · Chin Tucks: Stand with your back against a wall.
[55]
Depression, lower self-esteem & anxiety are mental issues ...
Girls & women with Turner syndrome may experience stresses of being “different”. Screening tools & resources can help.
[56]
The quality of life and body image disturbances of Turner syndrome ...
Nov 17, 2023 · This study aimed to investigate the quality of life (QoL) and body image disturbances among adult population with TS in comparison to age-matched controls
[57]
Oskar Kobyliński • LITFL • Medical Eponym Library
Nov 3, 2020 · Kobyliński published the case in Archiv für Anthropologie and defined in great detail an anatomical abnormality of webbing of the neck. He ...
[58]
Pterygium colli | Langenbeck's Archives of Surgery
Pterygium colli. Published: March 1902. Volume 63, pages ... Cite this article. Funke Pterygium colli. Deutsche Zeitschrift f. Chirurgie 63, 162–167 (1902).
[59]
“A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus ...
Jul 2, 2024 · The symptoms of Klippel-Feil are short or absent neck, lowered hairline on the neck, asymmetrical facial features, and a curved spine or other ...Missing: manifestations impairments<|control11|><|separator|>
[60]
“A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis ...
Aug 6, 2024 · In 1959, Charles Edmund Ford and colleagues published “A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome),” hereafter ...
[61]
RASopathies for Radiologists | RadioGraphics - RSNA Journals
Apr 11, 2024 · Pterygium colli represents a late consequence of nuchal lymphedema. Multiple coagulation-factor deficiencies and platelet dysfunction are also ...
[62]
ABNORMAL LYMPHATIC PHENOTYPE IN A CRISPR MOUSE ...
This study is the first to use CRISPR technology to develop a pre-clinical model of primary lymphedema and demonstrates the importance of distinguishing ...Missing: webbed | Show results with:webbed
[63]
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome ...
Jul 6, 2020 · We identified the intronic CRISPR repair as a personalized and in our view clinically translatable therapeutic strategy to treat NS-associated hypertrophic ...
[64]
[PDF] 8th International RASopathies Symposium Expanding Research ...
Jul 23, 2023 · In this study we use CRISPR gene editing and inducible pluripotent stem cell disease modeling to derive neural and cardiac tissue from ...
[65]
Webbed Neck Deformity Reconstruction in Patients with Turner ...
Pterygium colli, also known as webbed neck deformity, is a bilateral congenital cervical deformity that extends from the mastoid to the acromion process ...<|control11|><|separator|>
[66]
Environmental Epigenetics 2023 update - PMC - PubMed Central
Environmental Epigenetics publishes scientific and medical research related to the field of epigenetics with particular interest on the impact of the ...Missing: American neck anomalies