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Start free with EleplanMicrophthalmia with limb anomalies
ORPHA:1106Malformation syndrome
Also called Anophthalmia-syndactyly syndrome · OAS · Ophthalmoacromelic syndrome · Waardenburg anophthalmia syndrome
What it is
A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- 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%
15- Abnormal eyebrow morphology
- Abnormality of the lower limb
- Abnormality of the upper limb
- Abnormal metacarpal morphology
- Blepharophimosis
- Finger syndactyly
- Frontal bossing
- Hypoplasia of the maxilla
- Microphthalmia
- Prominent forehead
- Sandal gap
- Synostosis of carpal bones
- Synostosis of joints
- Toe syndactyly
- True anophthalmia
Common30–79%
22- Abnormal form of the vertebral bodies
- Abnormal thumb morphology
- Bilateral single transverse palmar creases
- Camptodactyly of 2nd-5th fingers
- Cleft upper lip
- Clinodactyly of the 5th finger
- Depressed nasal bridge
- Failure to thrive
- Fibular hypoplasia
- Finger aplasia
- Foot oligodactyly
- Intellectual disability, moderate
- Intellectual disability, severe
- Large earlobe
- Optic atrophy
- Postaxial hand polydactyly
- Posteriorly rotated ears
- Short long bone
- Short stature
- Short tibia
- Tarsal synostosis
- Tibial bowing
Sometimes5–29%
20- Arrhinencephaly
- Bowing of the long bones
- Broad thumb
- Cleft palate
- Cryptorchidism
- Death in infancy
- Elbow dislocation
- High palate
and 12 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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