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GTR Home > Conditions/Phenotypes > Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Synonyms
Bainbridge-Ropers syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: ASXL3-Related Disorder
ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.
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:
Meena Balasubramanian
Schaida Schirwani
view full author information

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRPS, KIAA1713, ASXL3
    Summary: ASXL transcriptional regulator 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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