Frontofacionasal dysplasia
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1791
Definition
A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Epidemiology
Five cases have been reported so far.
Clinical description
The etiology remains unknown.
Genetic counseling
The syndrome is inherited in an autosomal recessive manner.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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