Conditions / Genetic
velocardiofacial syndrome
info · Genetic · ICD-10: Q93.81
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is respo
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
Signs and symptoms
- Velopharyngeal insufficiency
- Intellectual disability
- Hypotonia
- Short stature
- Abnormality of the hand
- Unilateral primary pulmonary dysgenesis
- Blepharophimosis
- Paranoia
- Retinal vascular tortuosity
- Recurrent infections
Also known as: Shprintzen syndrome; VCF-Velocardiofacial syndrome