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Intellectual disability-hypotonic facies syndrome, X-linked, 1

Synonyms
CHUDLEY-LOWRY SYNDROME; Carpenter-Waziri syndrome; Chudley syndrome 1; Chudley-Lowry-Hoar syndrome; HOLMES-GANG SYNDROME; Smith Fineman Myers syndrome 1; X-linked intellectual disability-hypotonic face syndrome; XLMR-HYPOTONIC FACIES SYNDROME

Summary

Excerpted from the GeneReview: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Roger E Stevenson
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Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX, ATRX
    Summary: ATRX chromatin remodeler

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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