achondrogenesis type IB
ORPHA: 93298
Overview
achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen
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 IB, sourced from HPO and Orphanet clinical annotations.
MacrocephalyLong philtrumMicrognathiaAnteverted naresShort neckThickened nuchal skin foldNarrow chestShort footHydrops fetalisFrontal bossingMicromeliaShort noseAbnormal enchondral ossificationDisproportionate short statureSevere short statureLethal skeletal dysplasiaAplasia/Hypoplasia of the lungsShort thoraxFlat faceAbnormal rib morphologyUmbilical herniaPolyhydramniosTalipes equinovarusFemoral herniaCystic hygromaAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:93298achondrogenesis type IB
| Orphanet | ORPHA:93298 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO