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GTR Home > Conditions/Phenotypes > Coffin-Siris syndrome 1

Coffin-Siris syndrome 1

Synonyms
ARID1B-Related Coffin-Siris Syndrome; Mental retardation, autosomal dominant 12

Summary

Excerpted from the GeneReview: Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
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:
Samantha Schrier Vergano
Gijs Santen
Dagmar Wieczorek
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Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2, ARID1B
    Summary: AT-rich interaction domain 1B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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