Genetics Home Reference :
25
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.
People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).
Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).
The intellectual development of people with Aarskog-Scott syndrome varies widely. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.
MalaCards based summary :
Aarskog-Scott Syndrome, also known as
aarskog syndrome, is related to
unilateral focal polymicrogyria and
helsmoortel-van der aa syndrome. An important gene associated with Aarskog-Scott Syndrome is
FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways/superpathways are
Regulation of actin cytoskeleton and
p75 NTR receptor-mediated signalling. The drug
Astragalus has been mentioned in the context of this disorder. Affiliated tissues include
heart,
skin and
eye, and related phenotypes are
hypertelorism and
umbilical hernia
Disease Ontology :
12
A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
NIH Rare Diseases :
52
Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene . The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
OMIM :
56
Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).
(305400)
KEGG :
36
Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS.
UniProtKB/Swiss-Prot :
73
Aarskog-Scott syndrome: An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
Wikipedia :
74
Aarskog-Scott syndrome is a rare disease inherited as X-linked and characterized by short stature,...
more...
Rare neurological diseases 
