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Brain malformation-congenital heart disease-postaxial polydactyly syndrome

MedGen UID:
929214
Concept ID:
C4303545
Disease or Syndrome
Synonyms: Brain malformation, congenital heart disease, postaxial polydactyly syndrome; brain malformation-congenital heart disease-postaxial polydactyly syndrome; Goossens Devriendt syndrome; Goossens-Devriendt syndrome
SNOMED CT: Brain malformation, congenital heart disease, postaxial polydactyly syndrome (717943008); Goossens Devriendt syndrome (717943008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0019153
Orphanet: ORPHA75389

Definition

Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrain malformation-congenital heart disease-postaxial polydactyly syndrome

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