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International Birth Defects Information Systems
Aarskog Syndrome

International Birth Defects Information Systems



Aarskog Syndrome


Topics: | Aarskog Syndrome | Aarskog - Like Syndrome | Aarskog - Scott Syndrome | Faciodigitogenital Syndrome | Faciodigitogenitalt Syndrom | Faciogenital Dysplasia | Faciogenitalt Syndrom | FGDY | Kuwait Type Faciodigitogenital Syndrome |

Related Topics: | Robinow Syndrome |

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Languages: | English | Ukrainian |

Faciogenital Dysplasia
Victor A. McKusick, OMIM, Johns Hopkins University, March 4, 2008
Visitor Comments [for Professionals mainly]
Gene Map Locus: Xp11.21 - Aarskog (1970) described an X linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations ('saddle bag scrotum' or 'shawl scrotum'). Affected males can reproduce - Scott (1971) emphasized the occurrence of ligamentous laxity manifest by hyperextensibility of the fingers, genu recurvatum, and flat feet - Tyrkus et al (1980) described mother and son with Aarskog Scott syndrome - Expression was complete in the mother - The mother and son had a reciprocal translocation between the X chromosome and chromosome 8 - Fryns (1992) concluded that the incidence of mental handicap in Aarskog syndrome may be as high as 30%.

Faciodigitogenital Syndrome, Recessive
Victor A. McKusick, OMIM, Johns Hopkins University, March 17, 2004
Visitor Comments [for Professionals mainly]
The Aarskog faciodigitogenital syndrome (305400) is X linked in most instances; however, sex influenced autosomal dominant inheritance is possible in some (100050) - Teebi et al (1988) described an Arabic family with normal consanguineous parents and 5 children (3 males and 2 females) with some features of Aarskog syndrome in addition to unusual hair changes - The hair was coarse, dry, and relatively hypopigmented with widow's peak trait.

Aarskog Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, June 3, 1997
Visitor Comments [for Professionals mainly]
Grier et al (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum - X linked recessive inheritance has been repeatedly suggested - Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion.

Aarskog Syndrome
Pediatric Database (PEDBASE), 2007
An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.

Aarskog syndrom
I.B.I.S. Birth Defects, September 2, 2003
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Main diagnostic criteria ... Prevalence ... Clinical features ... Growth ... Face ... Limbs ... Genitals ... Diagnosis ... Differential diagnosis ... Prognosis ...

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Last Updated: 2008/06/10

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American Medical Association