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Start free with EleplanAcrootoocular syndrome
ORPHA:2980Malformation syndrome
Also called Pseudopapilledema-blepharophimosis-hand anomalies syndrome
What it is
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy, 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
Common30–79%
41- Abnormal finger flexion creases
- Abnormality of earlobe
- Abnormality of facial musculature
- Anodontia
- Atresia of the external auditory canal
- Blepharophimosis
- Choking episodes
- Conductive hearing impairment
- Cutaneous syndactyly
- Decreased palmar creases
- Decreased response to growth hormone stimulation test
- Delayed eruption of teeth
- Delayed skeletal maturation
- Dental malocclusion
- Downslanted palpebral fissures
- Epicanthus
- Failure to thrive
- Grayish enamel
- High, narrow palate
- Hyperpigmented nevi
- Hypotelorism
- Kyphoscoliosis
- Low-set ears
- Microcephaly
- Micrognathia
- Palmar hyperkeratosis
- Pectus excavatum
- Prominent calcaneus
- Pseudopapilledema
- Sandal gap
- Sensorineural hearing impairment
- Short finger
- Short foot
- Short metacarpal
- Short stature
- Short toe
- Small for gestational age
- Small hypothenar eminence
- Small thenar eminence
- Supernumerary tooth
- Wide nasal base
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.
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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