tetraamelia syndrome 2

Term ID

DOID:0112193

Synonyms

• TETAMS2
• tetra-amelia with pulmonary hypoplasia
• tetraamelia with pulmonary hypoplasia

Definition

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. (2)

References

• GARD:5147
• MIM:618021

Ontology

Human Disease   ( DOID:0112193 )