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GTR Home > Conditions/Phenotypes > ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Synonyms
Helsmoortel-Van der Aa Syndrome
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ADNP-Related Disorder
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
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:
Anke Van Dijck
Geert Vandeweyer
Frank Kooy
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Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADNP1, HVDAS, MRD28, ADNP
    Summary: activity dependent neuroprotector homeobox

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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