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Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Familial congenital muscular dystrophy with gonadal dysgenesis; Muscular dystrophy, congenital, infantile with cataract and hypogonadism
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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).
Monarch Initiative: MONDO:0009680
OMIM®: 254000
Orphanet: ORPHA1875


Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. [from ORDO]

Clinical features

From HPO
Congenital muscular dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).
MedGen UID:
Concept ID:
Disease or Syndrome
A decreased functionality of the gonad.
MedGen UID:
Concept ID:
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Follow this link to review classifications for Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome in Orphanet.

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