Rare diseases · Sign or symptom
Short neck
Decreased length of neck
HP:0000470
What it means
Diminished length of the neck.
Rare diseases that can present with this245
Very common80–99%
78- 3M syndrome
- 3q13microdeletion syndrome
- 48,XYYY syndrome
- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Acrocephalopolydactyly
- Autosomal recessive spondylocostal dysostosis
- Axial mesodermal dysplasia spectrum
- Branchioskeletogenital syndrome
- Campomelic dysplasia
- Cartilage-hair hypoplasia
- Cerebrofaciothoracic dysplasia
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cornelia de Lange syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Costello syndrome
- C syndrome
- Desbuquois syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Diaphanospondylodysostosis
- Difference of sex development-intellectual disability syndrome
- Distal deletion 9p syndrome
- Distal duplication 18q syndrome
- Distal duplication 6p syndrome
- Distal monosomy 7q36 syndrome
- Down syndrome
- Duplication of the pituitary gland
- Dysplastic cortical hyperostosis, Al-Gazali type
- Fibrochondrogenesis
- Fryns syndrome
- Grubben-de Cock-Borghgraef syndrome
- Hurler syndrome
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Infantile systemic hyalinosis
- Intellectual disability-polydactyly-uncombable hair syndrome
- Isolated Klippel-Feil syndrome
- Isolated megalencephaly
- Kagami-Ogata syndrome
- Maternal uniparental disomy of chromosome 9 syndrome
- Maternal uniparental disomy of chromosome X syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microlissencephaly-micromelia syndrome
- Monosomy 9p syndrome
- Monosomy 9q22.3 syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Mosaic trisomy 14 syndrome
- Mucopolysaccharidosis type 4
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Nijmegen breakage syndrome
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Osteosclerotic bone dysplasia
- Pallister-Killian syndrome
- Paternal uniparental disomy of chromosome X syndrome
- Peters plus syndrome
- Pierpont syndrome
- Pitt-Hopkins syndrome
- Primary basilar invagination
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Radio-renal syndrome
- Rhizomelic syndrome, Urbach type
- Ring chromosome 10 syndrome
- Ring chromosome 6 syndrome
- Schneckenbecken dysplasia
- SHOX-related short stature
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Spondylo-ocular syndrome
- Sprengel deformity
- Thakker-Donnai syndrome
- Trisomy 12p syndrome
- Trisomy 20p syndrome
- Trisomy 4p syndrome
- Trisomy 8q syndrome
- Trisomy 9p syndrome
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.