The inheritance of the Aarskog facial-digital-genital syndrome.
Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. Pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012730:Sex Chromosomes; D013577:Syndrome; D014034:Toes / Q000002:abnormalities