U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Geroderma osteodysplastica

Geroderma osteodysplastica

Synonyms
Geroderma osteodysplasticum; Walt Disney dwarfism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008). [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GO, NTKLBP1, SCYL1BP1, GORAB
    Summary: golgin, RAB6 interacting

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.