Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Synonyms: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome | Hyaluronidase 2 deficiency
A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing hypertelorism broad flat nasal bridge cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies pectus excavatum abnormalities of the hands and feet ocular abnormalities (myopia cataract staphyloma) and conductive or sensorineural hearing loss.
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 March 2024
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