atelosteogenesis type II
MeSH: C535395ORPHA: 56304
Overview
medical condition
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 II, sourced from HPO and Orphanet clinical annotations.
Limb undergrowthCleft palateShort neckShort ribsNarrow chestBrachydactylyUlnar deviation of the hand or of fingers of the handBroad metacarpalsHitchhiker thumbBell-shaped thoraxLaryngeal stenosisBilateral talipes equinovarusMetatarsus adductusSandal gapAbnormal facial shapePulmonary hypoplasiaTracheobronchomalaciaGenu valgumShort femurThoracolumbar kyphoscoliosisRhizomelic arm shorteningThoracic hypoplasiaBroad phalanxDumbbell-shaped femurShort lower limbsEquinovarus deformityLaryngeal cartilage malformationRhizomeliaShort phalanx of fingerUpper limb undergrowthShort metacarpalCamptodactylyIncreased femoral anteversionTibial torsionThin upper lip vermilionEpicanthusHypertelorismLong philtrumMicrognathiaLow-set earsTelecanthusPlagiocephalyProtuberant abdomenPolyhydramniosCervical kyphosisMicromeliaElbow flexion contractureFacial midline hemangiomaHypoplastic cervical vertebraeMidface retrusionWide nasal baseBilateral cleft palateElbow dislocation
Classification & Codes
MeSH Code
C535395Orphanet Code
ORPHA:56304atelosteogenesis type II
| MeSH | C535395 |
| Orphanet | ORPHA:56304 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO