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GTR Home > Conditions/Phenotypes > RAB23-related Carpenter syndrome

RAB23-related Carpenter syndrome

Synonyms
ACPS 2; ACPS II; Acrocephalopolysyndactyly Type II; Acrocephalopolysyndactyly type 2; Carpenter syndrome 1

Summary

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267). [from OMIM]

Available tests

26 tests are in the database for this condition.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPC137, RAB23
    Summary: RAB23, member RAS oncogene family

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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