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Start free with EleplanPaternal 20q13.2q13.3 microdeletion syndrome
ORPHA:261304Malformation syndrome
Also called Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3
What it is
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable
- 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%
22- Aplasia/Hypoplasia of the eyebrow
- Bulbous nose
- Deeply set eye
- Failure to thrive
- Feeding difficulties
- High forehead
- Hypertelorism
- Hypopigmentation of the skin
- Hypotonia
- Intellectual disability, mild
- Intrauterine growth retardation
- Lipoatrophy
- Macrotia
- Microcephaly
- Micrognathia
- Moderate global developmental delay
- Short philtrum
- Skin dimple
- Sparse hair
- Thin skin
- Thin vermilion border
- 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.
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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