Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

MedGen UID:: 1799324
•Concept ID:: C5567901
•: Disease or Syndrome

Synonyms:	Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome; intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
SNOMED CT:	Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (1177178005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0034991
Orphanet:	ORPHA508512

Definition

A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIntrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormality of skin pigmentation
        Hyperpigmentation of the skin
        Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

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Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

Definition

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