Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the radius
HP:0006501
What it means
A small/hypoplastic or absent/aplastic radius.
Rare diseases that can present with this39
Very common80–99%
16- Acro-renal-ocular syndrome
- Auriculoosteodysplasia
- Baller-Gerold syndrome
- Brachydactyly-elbow wrist dysplasia syndrome
- Camurati-Engelmann disease
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Dysraphism-cleft lip/palate-limb reduction defects syndrome
- Fanconi anemia
- Femur-fibula-ulna complex
- Heart-hand syndrome type 2
- Mesomelic dysplasia, Nievergelt type
- Metaphyseal anadysplasia
- Metaphyseal chondrodysplasia, Rosenberg type
- Ophthalmomandibulomelic dysplasia
- Sheldon-Hall syndrome
- Ulnar hypoplasia-split foot syndrome
Common30–79%
13- Aase-Smith syndrome type 1
- Acrofacial dysostosis, Rodríguez type
- Acrorenal syndrome
- Distal limb deficiencies-micrognathia syndrome
- Hartsfield syndrome
- Holt-Oram syndrome
- Nager syndrome
- RAPADILINO syndrome
- Ring chromosome 4 syndrome
- Sirenomelia
- Symbrachydactyly of hands and feet
- VACTERL/VATER association
- Von Voss-Cherstvoy syndrome
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: Absence or underdevelopment of the radius bone of the arm · Absent/small radius · Absent/underdeveloped radius · Radial aplasia/hypoplasia
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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.