Rare diseases · Sign or symptom
Short metacarpal
Shortened long bone of hand
HP:0010049
What it means
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm.
Rare diseases that can present with this45
Very common80–99%
17- Acrodysostosis
- Brachydactyly-arterial hypertension syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Brachydactyly type B
- Brachydactyly type E
- Chondrodysplasia-difference of sex development syndrome
- CODAS syndrome
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Paternal uniparental disomy of chromosome X syndrome
- PDE4D haploinsufficiency syndrome
- Rhizomelic dysplasia, Patterson-Lowry type
- Ruvalcaba syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Spondylometaphyseal dysplasia, Sedaghatian type
- Trichorhinophalangeal syndrome type 1
- Upper limb defect-eye and ear abnormalities syndrome
Common30–79%
17- 2q37microdeletion syndrome
- Acromesomelic dysplasia, Hunter-Thompson type
- Acrootoocular syndrome
- Adult Refsum disease
- Atelosteogenesis type II
- Blomstrand lethal chondrodysplasia
- CHILD syndrome
- CHST3-related skeletal dysplasia
- Coffin-Lowry syndrome
- Frontometaphyseal dysplasia
- Nance-Horan syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1C
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Spondyloepimetaphyseal dysplasia, Irapa type
- Ulbright-Hodes syndrome
Sometimes5–29%
10- Acromicric dysplasia
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Floating-Harbor syndrome
- Linear verrucous nevus syndrome
- Multiple epiphyseal dysplasia type 4
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: Brachymetacarpalia · Hypoplastic metacarpal · Metacarpal hypoplasia · Short metacarpal bones · Short metacarpals · Shortened long bones of hand · Shortened metacarpals · Shortening of metacarpals
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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.