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Start free with EleplanMaternal uniparental disomy of chromosome X syndrome
ORPHA:261519Malformation syndrome
Also called UPD(X)mat
What it is
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Key facts
- Age of onset
- Neonatal
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
23- Abnormality of chromosome segregation
- Agenesis of corpus callosum
- Camptodactyly of finger
- Congestive heart failure
- Cubitus valgus
- Depressed nasal bridge
- Flexion contracture
- Global developmental delay
- Hepatic failure
- Hypopigmentation of the skin
- Intellectual disability
- Inverted nipples
- Low posterior hairline
- Microcephaly
- Predominantly lower limb lymphedema
- Primary gonadal insufficiency
- Rocker bottom foot
- Scoliosis
- Seizure
- Shield chest
- Short neck
- Short stature
- Thin vermilion border
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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