Rare diseases · Sign or symptom
Rhizomelia
Disproportionately short upper portion of limb
HP:0008905
What it means
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Rare diseases that can present with this35
Very common80–99%
20- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant omodysplasia
- Autosomal recessive omodysplasia
- Blomstrand lethal chondrodysplasia
- Cartilage-hair hypoplasia
- CHST3-related skeletal dysplasia
- Cleidorhizomelic syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cranioectodermal dysplasia
- Greenberg dysplasia
- Hypertrichosis cubiti
- Iniencephaly
- Multiple epiphyseal dysplasia, Lowry type
- Pseudodiastrophic dysplasia
- Rhizomelic chondrodysplasia punctata
- Rhizomelic dysplasia, Patterson-Lowry type
- Rhizomelic syndrome, Urbach type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Common30–79%
7Sometimes5–29%
7The 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: Rhizomelic dwarfism · Rhizomelic limb shortening · Rhizomelic short limbs · Rhizomelic short stature · Rhizomelic shortening · Short stature, rhizomelic · Symmetrical rhizomelic limb shortening
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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.