campomelic dysplasia
MeSH: D055036ORPHA: 140
Overview
osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur
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 campomelic dysplasia, sourced from HPO and Orphanet clinical annotations.
Cleft palateMacrocephalyMicrognathiaShort neckNarrow chest11 pairs of ribsLaryngomalaciaRespiratory insufficiencyScoliosisRecurrent fracturesTracheomalaciaTracheobronchomalaciaHip dislocationTibial bowingShort long boneFibular hypoplasiaBowing of the long bonesSmall abnormally formed scapulaePoorly ossified cervical vertebraeHypoplastic inferior iliaFlat faceMale pseudohermaphroditismAmbiguous genitaliaHypertelorismLow-set earsProptosisTalipes equinovarusFemoral bowingShort statureSkin dimpleHydronephrosisHearing impairmentVentriculomegalyKyphosisAbnormality of the sense of smellDepressed nasal bridgeHypoplasia of olfactory tractAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
D055036Orphanet Code
ORPHA:140campomelic dysplasia
| MeSH | D055036 |
| Orphanet | ORPHA:140 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO