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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1791
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).
Five cases have been reported so far.
The etiology remains unknown.
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
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