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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome?
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Advocacy Organizations
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.