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Start free with EleplanAlpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ORPHA:98791Malformation syndrome
Also called ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type · ATR-16 syndrome · Alpha thalassemia-intellectual disability syndrome, deletion type
What it is
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5Common30–79%
22- Aplasia/Hypoplasia of the earlobes
- Broad forehead
- Bruising susceptibility
- Cryptorchidism
- Downslanted palpebral fissures
- Epicanthus
- Failure to thrive
- High forehead
- High palate
- Hypertelorism
- Hypotonia
- Malar flattening
- Microcephaly
- Micrognathia
- Pectus carinatum
- Posteriorly rotated ears
- Retrognathia
- Short neck
- Short stature
- Short toe
- Talipes equinovarus
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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