acromesomelic dysplasia, Grebe type
ORPHA: 2098
Overview
acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones
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 acromesomelic dysplasia, Grebe type, sourced from HPO and Orphanet clinical annotations.
BrachydactylyPostaxial hand polydactylyJoint stiffnessShort footShort toeSkeletal dysplasiaMicromeliaFibular hypoplasiaSynostosis of carpal bonesShort tibiaAplasia/Hypoplasia involving the metacarpal bonesBowing of the long bonesTarsal synostosisDisproportionate short-limb short statureAplasia/Hypoplasia of the thumbSarcomaAplasia of the middle phalanges of the toes
Classification & Codes
Orphanet Code
ORPHA:2098acromesomelic dysplasia, Grebe type
| Orphanet | ORPHA:2098 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO