ulna hypoplasia-intellectual disability syndrome
MeSH: C536934ORPHA: 2249
Overview
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ulna hypoplasia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Large fontanellesDelayed cranial suture closureIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityJoint stiffnessAbsent toenailAbsent fingernailMetatarsus adductusTalipesMicromeliaHypoplasia of the radiusHypoplasia of the ulnaMesomeliaElbow dislocationSevere short statureUlnar deviation of fingerBroad hallux phalanxBroad thumb
Classification & Codes
MeSH Code
C536934Orphanet Code
ORPHA:2249ulna hypoplasia-intellectual disability syndrome
| MeSH | C536934 |
| Orphanet | ORPHA:2249 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO