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Start free with EleplanX-linked alpha-thalassemia-intellectual disability syndrome
ORPHA:847Malformation syndrome
Also called ATR-X syndrome
What it is
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
14Common30–79%
21- Abnormal hemoglobin
- Anteverted nares
- Autism
- Depressed nasal ridge
- Drooling
- Epicanthus
- Everted lower lip vermilion
- Hypoplasia of penis
- Kyphosis
- Macroglossia
- Midface retrusion
- Motor delay
- Seizure
- Short stature
- Sleep abnormality
- Talipes equinovarus
- Telecanthus
- Tented upper lip vermilion
- Thick lower lip vermilion
- U-Shaped upper lip vermilion
- Visual impairment
Sometimes5–29%
31- Abnormal heart morphology
- Abnormality of movement
- Abnormality of the dentition
- Abnormality of the kidney
- Aganglionic megacolon
- Agenesis of corpus callosum
- Anemia
- Blindness
and 23 more in this range
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.
Gene
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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