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ORPHA:2067Malformation syndrome
Also called Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
What it is
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- 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%
24- Alopecia
- Anteverted nares
- Broad forehead
- Delayed eruption of teeth
- Delayed skeletal maturation
- Depressed nasal bridge
- Early balding
- Everted lower lip vermilion
- Frontal bossing
- High forehead
- Hyperextensible skin
- Hypertelorism
- Joint hypermobility
- Long philtrum
- Low-set ears
- Micrognathia
- Midface retrusion
- Palpebral edema
- Prematurely aged appearance
- Short stature
- Sparse eyebrow
- Sparse eyelashes
- Thick nasal alae
- Underdeveloped supraorbital ridges
Common30–79%
13- Abnormal form of the vertebral bodies
- Abnormality of pelvic girdle bone morphology
- Abnormality of the cerebral vasculature
- Abnormality of the clavicle
- Abnormal metaphysis morphology
- Abnormal palate morphology
- Abnormal thorax morphology
- Glaucoma
- Keratoconus
- Mandibular prognathia
- Skin tags
- Umbilical hernia
- Visual impairment
Sometimes5–29%
17- Amenorrhea
- Asymmetry of the thorax
- Atherosclerosis
- Choanal atresia
- Decreased skull ossification
- Dysmenorrhea
- Growth delay
- Hearing impairment
and 9 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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