Conditions / Syndrome
tetraamelia syndrome 2
info · Syndrome
A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome
A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.
Signs and symptoms
- Amelia
- Cleft palate
- Bilateral lung agenesis
- Micrognathia
- Bilateral cleft lip
- Ventricular septal defect
- Low-set ears
- Micropenis
- Hypoplastic pulmonary veins
- Microretrognathia
Also known as: TETAMS2; tetra-amelia with pulmonary hypoplasia; tetraamelia with pulmonary hypoplasia