Rare diseases · Sign or symptom
Brachydactyly
Short fingers or toes
HP:0001156
What it means
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Rare diseases that can present with this250
Very common80–99%
78- 1p36deletion syndrome
- Acrocephalopolydactyly
- Acrodysostosis
- Acrodysplasia scoliosis
- Acrofacial dysostosis, Catania type
- Acrofrontofacionasal dysostosis
- Acromesomelic dysplasia, Grebe type
- Acromesomelic dysplasia, Hunter-Thompson type
- Acromicric dysplasia
- AREDYLD syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive Robinow syndrome
- Banki syndrome
- Brachydactyly-arterial hypertension syndrome
- Brachydactyly-elbow wrist dysplasia syndrome
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Campomelia, Cumming type
- Camptobrachydactyly
- Cardiospondylocarpofacial syndrome
- Carey-Fineman-Ziter syndrome
- Charlie M syndrome
- CHST3-related skeletal dysplasia
- CINCA syndrome
- Cleidorhizomelic syndrome
- CODAS syndrome
- Cooks syndrome
- Corneodermatoosseous syndrome
- Cranioectodermal dysplasia
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Dahlberg-Borer-Newcomer syndrome
- Dermatoosteolysis, Kirghizian type
- Down syndrome
- Dysplastic cortical hyperostosis, Al-Gazali type
- Emery-Nelson syndrome
- Familial digital arthropathy-brachydactyly
- Feingold syndrome
- FGFR2-related bent bone dysplasia
- Fibrochondrogenesis
- Fibular aplasia-complex brachydactyly syndrome
- Fountain syndrome
- Frank-Ter Haar syndrome
- Greenberg dysplasia
- Hajdu-Cheney syndrome
- Heart-hand syndrome type 2
- Holoprosencephaly-craniosynostosis syndrome
- Hypochondroplasia
- Infantile systemic hyalinosis
- Larsen-like osseous dysplasia-short stature syndrome
- Larsen syndrome
- Lenz-Majewski hyperostotic dysplasia
- Leri pleonosteosis
- Léri-Weill dyschondrosteosis
- Mesomelia-synostoses syndrome
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic primordial dwarfism, Toriello type
- Monosomy 18p syndrome
- Multiple epiphyseal dysplasia, Lowry type
- Multiple synostoses syndrome
- Myhre syndrome
- Nicolaides-Baraitser syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Opsismodysplasia
- PDE4D haploinsufficiency syndrome
- Peters plus syndrome
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Progeria-short stature-pigmented nevi syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Pycnodysostosis
- Radio-renal syndrome
- Rhizomelic dysplasia, Patterson-Lowry type
- Rhizomelic syndrome, Urbach 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, 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
Also called: Brachydactyly syndrome
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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.