Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Orpha code: 508476OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome
Niedobór hialuronidazy 2
Hyaluronidase 2 deficiency
ORPHA code
508476
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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