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ORPHA:99812Disease
Also called DNA ligase IV syndrome · SCID with macrocephaly due to DNA ligase IV deficiency
What it is
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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%
6Common30–79%
18- Abnormality of bone marrow cell morphology
- Acute leukemia
- Biparietal narrowing
- Brachycephaly
- Convex nasal ridge
- Cutaneous photosensitivity
- Epicanthus
- Erythema
- Intellectual disability
- Low anterior hairline
- Lymphoma
- Micrognathia
- Pancytopenia
- Severe combined immunodeficiency
- Telecanthus
- Thin vermilion border
- Upslanted palpebral fissure
- 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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