Rare diseases · Sign or symptom
Micromelia
Smaller or shorter than typical limbs
HP:0002983
What it means
The presence of abnormally small extremities.
Rare diseases that can present with this89
Very common80–99%
65- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Acrocapitofemoral dysplasia
- Acrofrontofacionasal dysostosis
- Acromesomelic dysplasia, Grebe type
- Aminopterin/methotrexate embryofetopathy
- Astley-Kendall dysplasia
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant Robinow syndrome
- Becker nevus syndrome
- Boomerang dysplasia
- Campomelia, Cumming type
- Cartilage-hair hypoplasia
- Chondrodysplasia-difference of sex development syndrome
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Cornelia de Lange syndrome
- Coxoauricular syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniosynostosis, Herrmann-Opitz type
- Developmental malformations-deafness-dystonia syndrome
- Diastrophic dysplasia
- Distal deletion 17q syndrome
- Ellis-Van Creveld syndrome
- Femur-fibula-ulna complex
- Fibular aplasia-complex brachydactyly syndrome
- Greenberg dysplasia
- Heart-hand syndrome type 2
- Hypertrichosis cubiti
- Hypochondroplasia
- IMAGe syndrome
- Infantile systemic hyalinosis
- Jeune syndrome
- Kyphomelic dysplasia
- Langer mesomelic dysplasia
- Léri-Weill dyschondrosteosis
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism, Reinhardt-Pfeiffer type
- Mesomelic dysplasia, Nievergelt type
- Metatropic dysplasia
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microlissencephaly-micromelia syndrome
- Odontochondrodysplasia
- Ollier disease
- Ophthalmomandibulomelic dysplasia
- Orofaciodigital syndrome type 4
- Peters plus syndrome
- Phocomelia, Schinzel type
- Platyspondylic dysplasia, Torrance type
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Radio-renal syndrome
- Ruvalcaba syndrome
- Schneckenbecken dysplasia
- Schwartz-Jampel syndrome
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondylometaphyseal dysplasia, A4 type
- Stüve-Wiedemann syndrome
- Thanatophoric dysplasia
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Ulna hypoplasia-intellectual disability syndrome
Common30–79%
12- 3M syndrome
- 4q21microdeletion syndrome
- Achondrogenesis type 2
- Acrodysostosis
- Autosomal recessive omodysplasia
- Beta-mercaptolactate cysteine disulfiduria
- Congenital varicella syndrome
- C syndrome
- Dyssegmental dysplasia, Silverman-Handmaker type
- Lethal recessive chondrodysplasia
- Müllerian duct anomalies-limb anomalies syndrome
- Pyknoachondrogenesis
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
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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.