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ORPHA:576278Malformation syndrome
Also called SAS
What it is
A rare multisystem disorder characterized by moderate to severe developmental delay/intellectual disability (DD/ID) with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), craniofacial and oral features. Hypotonia and feeding difficulties are frequent manifestations, especially during the neonatal period and early childhood. Other supportive findings may include abnormal brain imaging, EEG abnormalities, epilepsy and skeletal anomalies with low bone density.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- 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.
Genes reported in subtypes
Orphanet records this gene on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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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