Limb deficiencies distal with micrognathia
ORPHA: 1307
Overview
congenital genetic disorder which causes oligodactyly and micrognathia
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 Limb deficiencies distal with micrognathia, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsMicroretrognathiaHypoplasia of the maxillaAbnormality of chromosome segregationAbnormality of the ankleAbnormal metacarpal morphologyOligodactylyCryptorchidismRenal insufficiencyRenal hypoplasiaProteinuriaNarrow mouthHigh palateConductive hearing impairmentMyopiaModerate intellectual disabilityAbnormality of the wristAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the thumbMicroglossiaCleft palateMacrocephalySensorineural hearing impairmentProminent nasal bridgeNystagmusMicrodontiaSplit footShort statureTarsal synostosisAbnormal morphology of ulna
Classification & Codes
Orphanet Code
ORPHA:1307Limb deficiencies distal with micrognathia
| Orphanet | ORPHA:1307 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO