Nager acrofacial dysostosis
MeSH: C538184ORPHA: 245
Overview
acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children
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 Nager acrofacial dysostosis, sourced from HPO and Orphanet clinical annotations.
Hypoplasia of the maxillaMicrognathiaHearing impairmentDownslanted palpebral fissuresDelayed speech and language developmentSkeletal dysplasiaAplasia/Hypoplasia of the thumbHypoplasia of the zygomatic boneWide mouthAbnormal palate morphologyCleft palateAtresia of the external auditory canalPtosisLower eyelid colobomaJoint stiffnessRespiratory insufficiencyHypoplasia of the radiusAbnormal nasal morphologyAplasia/Hypoplasia of the radiusSparse lower eyelashesMicrotiaAplasia/Hypoplasia of the eyebrowUnilateral renal agenesisTriphalangeal thumbAbnormality of the lower limbPhocomeliaAbnormal cardiovascular system morphologyNon-midline cleft of the upper lipPosteriorly rotated ears
Classification & Codes
MeSH Code
C538184Orphanet Code
ORPHA:245Nager acrofacial dysostosis
| MeSH | C538184 |
| Orphanet | ORPHA:245 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO