Schinzel type phocomelia

Term ID

DOID:0112181

Synonyms

• AARRS
• absence of ulna and fibula with severe limb deficiency
• Al Awadi-Raas-Rothschild syndrome
• Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
• aplasia/hypoplasia of limbs and pelvis
• congenital absence of ulna and fibula
• limb/pelvis-hypoplasia/aplasia syndrome
• LPHAS
• Schinzel phocomelia syndrome
• severe limb deficit

Definition

A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (2)

References

• GARD:9212
• OMIM:276820
• ORDO:2879

Ontology

Human Disease   ( DOID:0112181 )