Aarskog Syndrome

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Aarskog Syndrome

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

Note!
Aarskog Syndrome may be confused with Robinow Syndrome

Special Resources

Aarskog Syndrome

A Selection of Internet Sites

[*] Outstanding
[P] For Professionals
[S] Support Group
[Swedish]
[Ukrainian]

[*][P] Faciogenital Dysplasia (from OMIM)
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%.

[*][P] Faciodigitogenital Syndrome, Recessive (from OMIM)
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.

[*][P] Aarskog Syndrome (from OMIM)
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) - An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.

Aarskog syndrome by oso.com
Symptoms - short stature which may not be obvious until the child is between 1 and 3 years old - possible delayed sexual maturation - rounded face - hairline has a "widow's peak" - Wideset eyes with droopy eyelids - small nose with nostrils tipped forward - underdeveloped mid portion of the face - wide groove above the upper lip, crease below the lower lip - delayed eruption of teeth - top portion of the ear folded over slightly - small, broad hands and feet - short fingers and toes with mild webbing - simian crease (single) in palm of hand - mildly concave sternum - protruding umbilicus (navel) - inguinal hernias - "shawl" scrotum, undescended testicles - mild mental deficiency - palpebral slant eye - pectus excavatum.

[*][P][S][Swedish] Aarskog syndrom
Faciodigitogenitalt syndrom, Faciogenitalt - Sjukdom/skada/diahnos - Förekomst - Orsak till sjukdomen/skadan.

[Ukrainian] Aarskog syndrom
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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2/September/2003 S.L.