achondrogenesis type IA
ORPHA: 93299
Overview
achondrogenesis that results in abnormal ossification of the located in vertebral column or located in spine
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 achondrogenesis type IA, sourced from HPO and Orphanet clinical annotations.
MacrocephalyLong philtrumMicrognathiaAnteverted naresShort neckThickened nuchal skin foldNarrow chestHydrops fetalisFrontal bossingMicromeliaShort noseAbdominal distentionAbnormal enchondral ossificationSevere short statureLethal skeletal dysplasiaAplasia/Hypoplasia of the lungsShort thoraxFlat faceUmbilical herniaPolyhydramniosShort footRecurrent fracturesShort palmMultiple rib fracturesFemoral herniaCystic hygromaAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:93299achondrogenesis type IA
| Orphanet | ORPHA:93299 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO