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GTR Home > Conditions/Phenotypes > Genitopatellar syndrome

Genitopatellar syndrome

Synonyms
ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: KAT6B Disorders
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Gabrielle Lemire
Philippe M Campeau
Brendan H Lee
view full author information

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf, KAT6B
    Summary: lysine acetyltransferase 6B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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