Rare diseases · Sign or symptom
Abnormality of the neck
HP:0000464
What it means
An abnormality of the neck.
Rare diseases that can present with this24
Common30–79%
9Sometimes5–29%
11- 1p36deletion syndrome
- Atrophoderma vermiculata
- Cerebrotendinous xanthomatosis
- Epidermolysis bullosa simplex with circinate migratory erythema
- Hypertrichosis cubiti
- Isolated absence of upper arm and forearm with hand present
- Kaposiform lymphangiomatosis
- Kikuchi-Fujimoto disease
and 3 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: Anomaly of the neck · Deformity of the neck · Malformation of the neck
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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.