frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ORPHA: 306542
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 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateEpicanthusHypertelorismHypoplasia of the maxillaWidow's peakPosteriorly rotated earsPreauricular skin tagConductive hearing impairmentUnderdeveloped nasal alaeWide nasal bridgePtosisCataractMicrophthalmiaEyelid colobomaSparse eyelashesBrachydactylyAgenesis of corpus callosumTessier cleftPectoral muscle hypoplasia/aplasiaHypoplasia of the frontal boneAplasia/Hypoplasia of the frontal sinusesBifid noseFinger clinodactylySparse eyebrowCamptodactyly of fingerIntellectual disabilityTetralogy of FallotCranium bifidum occultumPericallosal lipoma
Classification & Codes
Orphanet Code
ORPHA:306542frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
| Orphanet | ORPHA:306542 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO