| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00846
|
Fuhrmann syndrome
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia ...
|
Congenital malformation
|
|
WNT7A [HSA:7476] [KO:K00572]
|
|
H00847
|
Al-Awadi/Raas-Rothschild syndrome
Ulna and fibula, absence of, with sever limb deficiency
|
... has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.
|
Congenital malformation
|
|
WNT7A [HSA:7476] [KO:K00572]
|
|
H02905
|
Santos syndrome
|
... clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause this syndrome. The WNT7A protein induces the local expression of LMX-1B, which is responsible ...
|
Congenital malformation
|
|
WNT7A [HSA:7476] [KO:K00572]
|