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ORPHA:974Malformation syndrome
Also called AOS · Aplasia cutis congenita with distal limb anomalies · Aplasia cutis congenita with terminal transverse limb defects · Congenital scalp defects with distal limb anomalies · Congenital scalp defects with distal limb reduction anomalies
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects.
Key facts
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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%
10Common30–79%
13Sometimes5–29%
23- Absent fingernail
- Alopecia
- Aplastic/hypoplastic toenail
- Arteriovenous malformation
- Ascites
- Cirrhosis
- Congenital hepatic fibrosis
- EEG abnormality
and 15 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.
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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