A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms.
Synonym: Aarskog-Scott syndrome.
(05 Mar 2000)
| Aarskog-Scott syndrome Classification and external resources |
|
| ICD-10 |
Q87.1 |
|---|---|
| ICD-9 | 759.89 |
| OMIM | 100050 |
| DiseasesDB | 29329 |
Aarskog-Scott syndrome is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies.
The Aarskog-Scott syndrome (AAS) is also known as the Aarskog syndrome
Aarskog-Scott syndrome is transmitted in an X-linked recessive manner. The sons of female carriers are at 50% risk of being affected with the syndrome. The daughters of female carriers are at 50% risk of being carriers themselves. Females may have mild manifestations of the syndrome. The syndrome is caused by mutation in a gene called FGDY1 in band p11.21 on the X chromosome.
The syndrome is named for Dagfinn Aarskog, a Norwegian pediatrician and human geneticist who first described it in 1970,[1] and for Charles I. Scott, Jr., an American medical geneticist who independently described the syndrome in 1971.[2]
The Aarskog-Scott syndrome is a disorder with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils, joint laxity, shawl scrotum, and mental retardation. The physical phenotype varies with age and postpuberal males may have only minor remnant manifestations of the prepuberal phenotype.
Genetic testing
Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Tria
Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.
Some recent findings have included cystic changes in the brain and generalized seizures[citation needed] . There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.
The Aarskog-Scott syndrome is due to mutation in the FGD1 gene. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates Cdc42, a member of the Rho (Ras homology) family of the p21 GTPases. By activating Cdc42, FGD1 protein stimulates fibroblasts to form filopodia, cytoskeletal elements involved in cellular signaling, adhesion, and migration. Through Cdc42, FGD1 protein also activates the c-Jun N-terminal kinase (JNK) signaling cascade, a pathway that regulates cell growth, apoptosis, and cellular differentiation.
Within the developing mouse skeleton, FGD1 protein is expressed in precartilaginous mesenchymal condensations, the perichondrium and periosteum, proliferating chondrocytes, and osteoblasts. These results suggest that FGD1 signaling may play a role in the biology of several different skeletal cell types including mesenchymal prechondrocytes, chondrocytes, and osteoblasts. 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.
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.
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