Rare diseases · Sign or symptom
Short thumb
Short thumbs
HP:0009778
What it means
Hypoplasia (congenital reduction in size) of the thumb.
Rare diseases that can present with this35
Very common80–99%
12- Acromesomelic dysplasia, Hunter-Thompson type
- Acro-renal-ocular syndrome
- Brachydactyly type A1
- Hand-foot-genital syndrome
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral
- Lethal faciocardiomelic dysplasia
- Mesoaxial synostotic syndactyly with phalangeal reduction
- Microgastria-limb reduction defect syndrome
- Otopalatodigital syndrome type 2
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- Upper limb defect-eye and ear abnormalities syndrome
- Weill-Marchesani syndrome
Common30–79%
11- 14q24.1q24.3microdeletion syndrome
- Cenani-Lenz syndrome
- Contractures-developmental delay-Pierre Robin syndrome
- Feingold syndrome type 1
- Feingold syndrome type 2
- IVIC syndrome
- Juberg-Hayward syndrome
- Otopalatodigital syndrome type 1
- PHAVER syndrome
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Wolf-Hirschhorn syndrome
Sometimes5–29%
11- Autosomal dominant deafness-onychodystrophy syndrome
- Diamond-Blackfan anemia
- Floating-Harbor syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Lacrimoauriculodentodigital syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Multiple epiphyseal dysplasia type 4
- Oculofaciocardiodental syndrome
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: Hypoplastic thumb · Hypoplastic thumbs · Hypoplastic/small thumb · Small thumbs · Thumb brachydactyly · Thumb hypoplasia
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.