Rare diseases · Sign or symptom
Webbed neck
Neck webbing
HP:0000465
What it means
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Rare diseases that can present with this60
Very common80–99%
11- Autosomal recessive multiple pterygium syndrome
- Isolated Klippel-Feil syndrome
- Kagami-Ogata syndrome
- Monosomy 9p syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Neurofibromatosis-Noonan syndrome
- Noonan syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Sheldon-Hall syndrome
- Thakker-Donnai syndrome
- X-linked mandibulofacial dysostosis
Common30–79%
21- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Camptodactyly syndrome, Guadalajara type 3
- Cardiofaciocutaneous syndrome
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Craniosynostosis, Herrmann-Opitz type
- Holzgreve syndrome
- KBG syndrome
- Lethal congenital contracture syndrome type 1
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Monosomy 18p syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Noonan syndrome with multiple lentigines
- Orofaciodigital syndrome type 14
- Peters plus syndrome
- Pyknoachondrogenesis
- SCARF syndrome
- Short stature-webbed neck-heart disease syndrome
- Simpson-Golabi-Behmel syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
Sometimes5–29%
23- 45,X/46,XY mixed gonadal dysgenesis
- 9q33.3q34.11microdeletion syndrome
- Acrofacial dysostosis, Catania type
- Baraitser-Winter cerebrofrontofacial syndrome
- Cerebrocostomandibular syndrome
- Classical-like Ehlers-Danlos syndrome type 2
- Diamond-Blackfan anemia
- Distal 22q11.2 microduplication syndrome
and 15 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Pterygium colli
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.