Alpha thalassemia-intellectual disability syndrome type 1
- Synonyms
- ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE; ATR, DELETION-TYPE; ATR-16 SYNDROME; CHROMOSOME 16p DELETION SYNDROME; Chromosome 16-related alpha-thalassemia/mental retardation syndrome; HEMOGLOBIN H-RELATED MENTAL RETARDATION; MENTAL RETARDATION WITH HEMOGLOBIN H
- Modes of inheritance
- Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
14 tests are in the database for this condition.
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Clinical tests (14 available)
Biochemical Genetics Tests
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