Conditions / Genetic
Jacobsen Syndrome
info · Genetic
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
Signs and symptoms
- Microcephaly
- Global developmental delay
- Intrauterine growth retardation
- Epicanthus
- Strabismus
- Trigonocephaly
- Flexion contracture
- Pyloric stenosis
- Microcornea
- Short nose
Also known as: Jacobsen distal 11q deletion syndrome; chromosome 11q deletion syndrome; partial 11q monosomy syndrome