Conditions / Syndrome
tetraamelia syndrome 1
info · Syndrome
A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
Signs and symptoms
- Tetraamelia
- Absent external genitalia
- Cleft palate
- Hypoplastic pelvis
- Cleft upper lip
- Renal agenesis
- Pulmonary hypoplasia
- Hypoplasia of the fallopian tube
- Hydrocephalus
- Low-set ears
Also known as: TETAMS1; tetra-amelia syndrome 1