U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Lethal Kniest-like syndrome

Lethal Kniest-like syndrome

Synonyms
Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; Dyssegmental Dysplasia; Dyssegmental Dysplasia, Silverman-Handmaker Type; Dyssegmental dwarfism Silverman-Handmaker type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by Arikawa-Hirasawa et al., 2001). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPG, PLC, PRCAN, SJA, SJS, SJS1, HSPG2
    Summary: heparan sulfate proteoglycan 2

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.