Acrocraniofacial dysostosis
MeSH: C536892ORPHA: 949
Overview
rare 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 Acrocraniofacial dysostosis, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsCleft palateTurricephalyShort philtrumMicrognathiaAbnormal pinna morphologyProminent nasal bridgeAnteverted naresDownslanted palpebral fissuresTelecanthusPtosisProptosisTapered fingerTriphalangeal thumbAbnormal fingernail morphologyFlared iliac wingAbnormal form of the vertebral bodiesShort staturePreauricular pitAbnormal toenail morphologyShort distal phalanx of fingerShort 1st metacarpalPartial duplication of the distal phalanx of the halluxBroad thumbMicrocephalyHypertelorismSloping foreheadConductive hearing impairmentSensorineural hearing impairmentChoanal atresiaMyopiaLacrimation abnormalityPectus excavatumCraniosynostosisCoxa valgaGenu valgumAbnormal hip bone morphologySpina bifida occultaAbnormality of the middle ear ossiclesAdvanced eruption of teethUlnar deviation of fingerAbnormal incus morphologyAbnormal malleus morphologyAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C536892Orphanet Code
ORPHA:949Acrocraniofacial dysostosis
| MeSH | C536892 |
| Orphanet | ORPHA:949 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO