Aarskog syndrome

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Intelligence is usually normal. more...

Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome, specifically Xp11.21.

It is also known as, Aarskog-Scott syndrome (ASS), Greig syndrome, facial-digital-genital syndrome, facio-digito-genital syndrome, and shawl scrotum syndrome.

DescriptionMultiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.

Features

• mild to moderate 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"
• wide set 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 with short fingers and in-curving 5th finger
• short fingers and toes with 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)
• head nad neck- round face, broad forhead, hypoplastic ridging of the metopic sutures, and maxilla with relative mandibular prognathism
• ears- thickness and fleshiness of the earlobes
• Eyes: Hypertelorism, enlarged corneal diameter, downslanting palpebral fissures, blepharoptosis, and ophthalmoplegia.
• Mouth and oral structures: A curved depression below the lover lip may be associated
• Abdomen: Prominent umbilicus is frequent
• Hand and foot: Tissue webbing between fingers and joint hypermobility with a pronounced hyperextension and flexion of the interphalangeal joints. Some patients exhibit fifth finger clinodactyly. The feet are flat, broad, and small with bulbous toes. Metatarsal abduction occurs in about half of all cases. Dermatoglyphic findings consist of single palmar creases.
• Extremities: Joint hyperlaxity
• Spine: Spina bifida occulta, cervical vertebral defects, hypoplasia of the first cervical vertebra with unfused posterior arch, and subluxation of the first and second cervical vertebrae
• Urogenital system: Shawl scrotum
• Behavior and performance: Hyperactivity and attention deficit are frequent
• Heredity: Transmitted as an X-linked trait. Napped to the short arm of chromosome X (Xp11.22)

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