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McDonough syndrome

MedGen UID:: 162902
•Concept ID:: C0796038
•: Disease or Syndrome

Synonym:	Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect
SNOMED CT:	McDonough syndrome (715441004)

Monarch Initiative:	MONDO:0009570
OMIM®:	248950
Orphanet:	ORPHA2471

Definition

Belongs to the group of multiple congenital anomalies/intellectual disabilities syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMcDonough syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- McDonough syndrome

Follow this link to review classifications for McDonough syndrome in Orphanet.

Professional guidelines

PubMed

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

Neuhäuser G, Opitz JM
Z Kinderheilkd 1975 Nov 13;120(4):231-42. doi: 10.1007/BF00440262. PMID: 1189520

Recent clinical studies

Diagnosis

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

Neuhäuser G, Opitz JM
Z Kinderheilkd 1975 Nov 13;120(4):231-42. doi: 10.1007/BF00440262. PMID: 1189520

Supplemental Content

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Clinical resources

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Molecular resources

Coriell Institute for Medical Research

Consumer resources

Reviews

Related information

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