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ORPHA:87Malformation syndrome
Also called ACS1 · Acrocephalosyndactyly type 1
What it is
A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Key facts
- Prevalence
- 1-9 / 100 000 (Spain)
- Age of onset
- Antenatal, 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.
Signs and symptoms
Very common80–99%
13Common30–79%
24- Absent septum pellucidum
- Agenesis of corpus callosum
- Aplasia/Hypoplasia of the thumb
- Broad thumb
- Cervical vertebrae fusion (C5/C6)
- Convex nasal ridge
- Delayed eruption of teeth
- Dental crowding
- Dental malocclusion
- Downslanted palpebral fissures
- Facial asymmetry
- Feeding difficulties in infancy
- Hyperhidrosis
- Hypertelorism
- Hypertension
- Intellectual disability
- Large fontanelles
- Mandibular prognathia
- Midface retrusion
- Morphological abnormality of the semicircular canal
- Narrow palate
- Shallow orbits
- Strabismus
- Vertebral segmentation defect
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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