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GTR Home > Conditions/Phenotypes > Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Synonyms
Kosaki overgrowth syndrome; SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION
Modes of inheritance
No inheritance data available (Orphanet)

Summary

Kosaki overgrowth syndrome (KOGS) is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, and have large hands and feet. Skin is hyperelastic and fragile. Patients exhibit progressive dilatory and vascular changes in basilar/vertebral and coronary arteries starting in the teenage years (Takenouchi et al., 2015; Takenouchi et al., 2021). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT, PDGFRB
    Summary: platelet derived growth factor receptor beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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