Aarskog-Scott syndrome , AAS (Abkürzung)
faciogenital dysplasia

Type 1 is associated with Aarskog-Scott syndrome.

Aarskog-Scott syndrome is transmitted in an X-linked recessive manner.

The Aarskog-Scott syndrome is due to mutation in the FGD1 gene.

Aarskog-Scott syndrome is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies.

In humans, it can be found in those suffering from LEOPARD syndrome and from Aarskog-Scott syndrome.

Aarskog syndrome (Aarskog-Scott syndrome), detailed up-to-date information in OMIM (PediaBook.com)

The characterization of the spatiotemporal pattern of FGD1 expression in mouse embryos has provided important clues to the understanding of the pathogenesis of Aarskog-Scott syndrome.

Faciogenital Dysplasia (Aarskog-Scott syndrome), detailed up-to-date information in OMIM (Online Mendelian Inheritance in Man)

It appears likely that the primary defect in Aarskog-Scott syndrome is an abnormality of FGD1/Cdc42 signaling resulting in anomalous embryonic development and abnormal endochondral and intramembranous bone formation.

Mutations in the FGD1 gene that cause the production of non-functional proteins are responsible for the severe phenotype of the X-linked disorder faciogential dysplasia (FGDY), also called Aarskog-Scott syndrome.

Mutations in the FGD1 gene cause phenotypes associated with the X-linked recessively transmitted faciogential dysplasia (FGDY) also known as Aarskog-Scott syndrome, a human developmental disorder that can occur with neurologial problems.

The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).