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Start free with EleplanAarskog-Scott syndrome
ORPHA:915Malformation syndrome
Also called Aarskog syndrome · Faciodigitogenital syndrome · Faciogenital dysplasia
What it is
A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked 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%
11Common30–79%
16- Abnormal pinna morphology
- Anteverted nares
- Broad forehead
- Clinodactyly of the 5th finger
- Cognitive impairment
- Cryptorchidism
- Downslanted palpebral fissures
- Finger syndactyly
- High anterior hairline
- Hyperextensible skin
- Inguinal hernia
- Joint hypermobility
- Long philtrum
- Posteriorly rotated ears
- Ptosis
- 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.
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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