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GTR Home > Conditions/Phenotypes > Congenital muscular hypertrophy-cerebral syndrome

Congenital muscular hypertrophy-cerebral syndrome

Synonyms
Cornelia de Lange syndrome 2; SMC1A-Related Cornelia de Lange Syndrome

Summary

Excerpted from the GeneReview: Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Matthew A Deardorff
Sarah E Noon
Ian D Krantz
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Available tests

80 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (80 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB, SMC1A
    Summary: structural maintenance of chromosomes 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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