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Start free with EleplanPaternal uniparental disomy of chromosome 6 syndrome
ORPHA:96191Malformation syndrome
Also called UPD(6)pat
What it is
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Key facts
- Age of onset
- Antenatal, Neonatal
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
26- Abnormality of earlobe
- Abnormality of the face
- Cardiomegaly
- Cryptorchidism
- Dehydration
- Generalized myoclonic seizure
- Gingival overgrowth
- Hepatomegaly
- High palate
- Hypoplastic fingernail
- Intrauterine growth retardation
- Labial hypertrophy
- Macroglossia
- Micrognathia
- Neonatal insulin-dependent diabetes mellitus
- Neonatal respiratory distress
- Oligohydramnios
- Postnatal growth retardation
- Precocious puberty
- Prominent nose
- Prominent occiput
- Retrognathia
- Shallow orbits
- Small anterior fontanelle
- Umbilical hernia
- Ventricular septal defect
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.
Genes
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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