atelosteogenesis type I
MeSH: C535396ORPHA: 1190
Overview
disease
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 atelosteogenesis type I, sourced from HPO and Orphanet clinical annotations.
Narrow chestBrachydactylyTalipes equinovarusPulmonary hypoplasiaAbnormal fibula morphologyShort femurCoronal cleft vertebraeAbsent or minimally ossified vertebral bodiesThoracic hypoplasiaRhizomeliaAbnormal ossification involving the femoral head and neckLimb undergrowthMidface retrusionCleft palateHypertelorismMicrognathiaLow-set earsTelecanthusProptosisPlatyspondylyJoint dislocationPolyhydramniosLaryngeal stenosisEnlarged cisterna magnaScoliosisShort long boneMalrotation of colonLaryngotracheal stenosisMultiple renal cystsRetinal dysplasiaNeonatal short-trunk short statureAbnormal pancreatic duct morphology
Classification & Codes
MeSH Code
C535396Orphanet Code
ORPHA:1190atelosteogenesis type I
| MeSH | C535396 |
| Orphanet | ORPHA:1190 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO