Rare diseases · Sign or symptom
Broad neck
Increased width of neck
HP:0000475
What it means
Increased side-to-side width of the neck.
Rare diseases that can present with this15
Common30–79%
11- 17q24.2microdeletion syndrome
- Down syndrome
- FG syndrome type 1
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- X-linked intellectual disability, Nascimento type
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: Thick neck · Wide 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.