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Start free with EleplanIntellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
ORPHA:369837Malformation syndrome
Also called Congenital disorder of glycosylation due to PIGT deficiency · MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3 · PIGT-CDG
What it is
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
Key facts
- Prevalence
- <1 / 1 000 000
- 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
Very common80–99%
13Common30–79%
20- Abnormal eye physiology
- Abnormal heart morphology
- Abnormality of the urinary system
- Bilateral tonic-clonic seizure
- Congenital megaureter
- Decreased circulating alkaline phosphatase activity
- Delayed skeletal maturation
- Downturned corners of mouth
- Generalized myoclonic seizure
- Generalized tonic seizure
- Hearing impairment
- High, narrow palate
- Hypercalcemia
- Hypercalciuria
- Hypermetropia
- Nephrocalcinosis
- Pectus excavatum
- Scoliosis
- Upper limb undergrowth
- 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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