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GTR Home > Conditions/Phenotypes > Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy

Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy

Synonyms
46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations; BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME; Kennerknecht syndrome; MYOECTODERMAL GONADAL DYSGENESIS SYNDROME

Summary

Myoectodermal gonadal dysgenesis syndrome (MEGD) is characterized by 46,XY complete or partial gonadal dysgenesis, or 46,XX gonadal dysgenesis, in association with extragonadal anomalies, including low birth weight, typical facies, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. Dysmorphic facial features along with muscular habitus are the hallmarks of the syndrome. Abnormal hair patterning with frontal upsweep and additional whorls, eyebrow abnormalities comprising broad, arched, and sparse or thick eyebrows, underdeveloped alae nasi, smooth philtrum, and low-set ears with overfolded helices facilitate a gestalt diagnosis. (Guran et al., 2019; Altunoglu et al., 2022). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14orf10, G4-1, G5pr, GDRM, MEGD, SPGF36, PPP2R3C
    Summary: protein phosphatase 2 regulatory subunit B''gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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