Synonyms: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures coloboma of inferior eyelid with presence of eyelashes medial to the defect prominent nasal bridge thin lips prominent ears) that can be accompanied by hearing loss unilateral cleft lip preauricular tags cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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