Rare diseases · Sign or symptom
Abnormal thumb morphology
Abnormality of the thumb
HP:0001172
What it means
An abnormal structure of the first digit of the hand.
Rare diseases that can present with this27
Very common80–99%
12- Acro-renal-ocular syndrome
- Distal deletion 17q syndrome
- Emery-Nelson syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Fanconi anemia
- Fibular aplasia-complex brachydactyly syndrome
- Foix-Chavany-Marie syndrome
- Isolated humero-radio-ulnar synostosis
- Isolated radial hemimelia
- Krabbe disease
- Microbrachycephaly-ptosis-cleft lip syndrome
- Thumb stiffness-brachydactyly-intellectual disability syndrome
Common30–79%
5Sometimes5–29%
10- 15q24microdeletion syndrome
- Autosomal dominant optic atrophy and cataract
- Autosomal recessive spastic paraplegia type 20
- Cleidocranial dysplasia
- FG syndrome type 1
- Lacrimoauriculodentodigital syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Oculocerebral hypopigmentation syndrome, Cross type
and 2 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: Abnormality of the thumbs · Thumb deformity
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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.