Rare diseases · Sign or symptom
Abnormality of the hand
Abnormal hands
HP:0001155
What it means
An abnormality affecting one or both hands.
Rare diseases that can present with this41
Very common80–99%
7Common30–79%
18- 2q23.1microduplication syndrome
- 8q24.3microdeletion syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal recessive spastic paraplegia type 20
- Cataract-intellectual disability-hypogonadism syndrome
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 4G
- Corneodermatoosseous syndrome
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Poland syndrome
- Scleromyxedema
- SLC35A2-CDG
- Sweet syndrome
- Tricho-retino-dento-digital syndrome
- Trisomy 10p syndrome
Sometimes5–29%
16- Cerebrotendinous xanthomatosis
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Distal deletion 13q syndrome
- Dowling-Degos disease
- Farber disease
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome
and 8 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: Hand anomalies · Hand deformities
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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.