aarskog syndrome…

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face, simian crease, pectus excavatum, aarskog syndrome, inherited disease characterized by short stature, facial abnormalities, musculoskeletal, genital anomalies, aarskog syndrome, x-linked recessive genetic disorder, disorder affects mainly males, females, milder manifestation, the features, mutations, gene, fgdy1 found on the x chromosome, mild to moderate short stature, child is between 1 and 3 years old, delayed sexual maturation, rounded face, hairline has a "widow's peak", wide set eyes, droopy eyelids, small nose, nostrils tipped forward, underdeveloped mid-portion, the face, wide groove, above the upper lip, crease below the lower lip, delayed eruption of teeth, top portion, the ear folded over slightly, broad hands, feet, short fingers, in-curving 5th finger, short fingers, toes, mild webbing, simian crease, single, in palm of hand, protruding belly button, inguinal hernias, "shawl" scrotum, undescended testicles, mild to moderate mental deficiency, eyes have downward palpebral slant, pectus excavatum, mildly sunken chest, x-rays, reveal skeletal abnormalities, genetic testing available, mutations, in the fgdy1 gene, orthodontic treatment, the facial abnormalities, trials of growth hormone, effective, short stature in this disorder, magic foundation, children's growth, support group, aarskog syndrome, magicfoundation, mild degrees of mental slowness present, affected children, have good social skills, males, exhibit reduced fertility, cystic changes, in the brain, generalized seizures, difficulty growing, in the first year of life, one-third of cases, misaligned teeth, require orthodontic correction, an undescended testicle, require surgery, child exhibits delays in growth, the irregularities described, seek genetic counseling, aarskog syndrome in family, seek evaluation by a geneticist, child, have aarskog syndrome, no guaranteed prevention, prenatal testing available, relative has a known mutation.