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

MedGen UID:
1800190
Concept ID:
C5568767
Disease or Syndrome
Synonyms: Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome; Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome; Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome; Hyaluronidase 2 deficiency; hyaluronidase 2 deficiency
SNOMED CT: Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (1187039001); Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome (1187039001); Hyaluronidase 2 deficiency (1187039001)
 
Monarch Initiative: MONDO:0034820
Orphanet: ORPHA508476

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

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