ORPHA: 915; DO: 0111825;
Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983).
Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. Stretchable skin was present in these patients.
Grier et al. (1983) tabulated the findings in 82 previously reported cases of Aarskog syndrome and noted that X-linked recessive inheritance was repeatedly suggested. However, their family had father-to-son transmission, and a family reported by Welch (1974) had affected males in 3 consecutive generations. Grier et al. (1983) suggested autosomal dominant inheritance with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion.
Van de Vooren et al. (1983) studied a large family in which Aarskog syndrome was segregating with variable expression in 3 generations and with male-to-male transmission. Because 3 daughters of affected males had no features of Aarskog syndrome and 2 sons of an affected male had several features of the syndrome, van de Vooren et al. (1983) suggested sex-influenced autosomal dominant inheritance.
Grier, R. E., Farrington, F. H., Kendig, R., Mamunes, P. Autosomal dominant inheritance of the Aarskog syndrome. Am. J. Med. Genet. 15: 39-46, 1983. [PubMed: 6344635] [Full Text: https://doi.org/10.1002/ajmg.1320150105]
van de Vooren, M. J., Niermeijer, M. F., Hoogeboom, A. J. M. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clin. Genet. 24: 439-445, 1983. [PubMed: 6652957] [Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00100.x]
Welch, J. P. Elucidation of a 'new' pleiotropic connective tissue disorder. Birth Defects Orig. Art. Ser. X(10): 138-146, 1974.