atelosteogenesis
MeSH: C579928ORPHA: 56305
Overview
human 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, sourced from HPO and Orphanet clinical annotations.
Abnormal humerus morphologyShort tubular bones of the handTalipes equinovarusRespiratory insufficiencyHip dislocationPatellar dislocationElbow dislocationCoronal cleft vertebraeKnee dislocationDistal tapering femurVertebral hypoplasiaHigh palateMicrognathiaHand clenchingGlobal developmental delayPolyhydramniosFibular aplasiaUlnar deviation of the wristAbsent humerusEpiphyseal stippling of the humerusAbsent radiusThoracic hypoplasiaThoracolumbar kyphosisShort tibiaAbnormal cervical curvatureClub-shaped distal femurLaryngotracheomalacia
Classification & Codes
MeSH Code
C579928Orphanet Code
ORPHA:56305atelosteogenesis
| MeSH | C579928 |
| Orphanet | ORPHA:56305 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO