Rare diseases · Sign or symptom
Abnormal metacarpal morphology
Abnormal shape of long bones of hand
HP:0005916
What it means
Any abnormal shape or structure of the metacarpal bones.
Rare diseases that can present with this65
Very common80–99%
26- Acrodysostosis
- Albers-Schönberg osteopetrosis
- Banki syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Cenani-Lenz syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Diastrophic dysplasia
- Distal deletion 17q syndrome
- Distal limb deficiencies-micrognathia syndrome
- Gorlin-Chaudhry-Moss syndrome
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral
- Isolated humero-radio-ulnar synostosis
- Larsen-like osseous dysplasia-short stature syndrome
- Laurin-Sandrow syndrome
- Leri pleonosteosis
- Mesomelia-synostoses syndrome
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microphthalmia with limb anomalies
- Neurofaciodigitorenal syndrome
- Nicolaides-Baraitser syndrome
- Postaxial tetramelic oligodactyly
- Thumb stiffness-brachydactyly-intellectual disability syndrome
- Trisomy 5p syndrome
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
29- 2q31.1microdeletion syndrome
- Acrocardiofacial syndrome
- Adams-Oliver syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Axial spondylometaphyseal dysplasia
- Baller-Gerold syndrome
- Boomerang dysplasia
- Charlie M syndrome
- Cleidocranial dysplasia
- Corneodermatoosseous syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Ectrodactyly-polydactyly syndrome
- Frank-Ter Haar syndrome
- Heart-hand syndrome type 2
- Holt-Oram syndrome
- Holzgreve syndrome
- Juberg-Hayward syndrome
- Lenz-Majewski hyperostotic dysplasia
- Marinesco-Sjögren syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Metaphyseal chondrodysplasia, Rosenberg type
- Microgastria-limb reduction defect syndrome
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Proximal symphalangism
- Robin sequence-oligodactyly syndrome
- Smith-Lemli-Opitz syndrome
- Syndactyly type 2
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: Abnormal shape of metacarpal bones
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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.