Conditions / Syndrome
Teebi hypertelorism syndrome 1
info · Syndrome
A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
Signs and symptoms
- Preauricular pit
- Ventricular septal defect
- Thin upper lip vermilion
- Small hand
- Hypertelorism
- Natal tooth
- Upslanted palpebral fissure
- Pulmonary hypoplasia
- Long philtrum
- Hypopigmented macule
Also known as: Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1