GenTIGSA Gene Database on Rare Genetic Disorders
Schinzel Phocomelia Syndrome  
Disease Aliases (23)

Aarrs

Al-awadi/raas-rothschild syndrome

Absence of ulna and fibula

Absence of ulna and fibula with severe limb deficiency

Al awadi rass rothschild syndrome

Al awadi teebi farag syndrome

Al awadi-raas-rothschild syndrome

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

Limb-pelvis hypoplasia-aplasia syndrome

Limb-pelvis-hypoplasia-aplasia syndrome

Phocomelia, schinzel type

Schinzel phocomelia syndrome

Schinzel type phocomelia

Severe limb deficit

Teebi naguib al awadi syndrome

Ulna and fibula, absence of, with severe limb deficiency

Ulna and fibula absence of with severe limb deficiency

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence

Associated Genes (1)
 

NCBI-RefSeq:  WNT7A   (Wnt family member 7A)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Schinzel phocomelia syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations