The Aarskog (facio-digito-genital) syndrome.
A kindred with the Aarskog Syndrome (facio-digito-genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft pastic dermatoglyphic pattern includes simian creases and distal axial tiriradii. The pedigree analysis from 14 known kindreds strongly suggests an X-linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000368:Aged; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006580:Genetic Carrier Screening; D005835:Genitalia / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome