Conditions / Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
info · Syndrome
A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairme
A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.
Signs and symptoms
- Epicanthus
- Hypertelorism
- Sprengel anomaly
- Cupped ear
- Cleft palate
- Contracture of the proximal interphalangeal joint of the 3rd finger
- Contracture of the proximal interphalangeal joint of the 4th finger
- Low-set ears
- Short stature
- Ectopia pupillae
Also known as: heterozygotes for TBX2 variants