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Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Intelligence is usually normal.
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.
Description
Multiple 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 forehead, 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 lower 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)
Diagnosis
X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition.
Treatment
Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.
Support Groups
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Prognosis
Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.
Complications
Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.
References
- Magalini, Sergio I. and Sabina C. Magalini. Dictionary of Medical Syndromes, 4th ed. (1997). ISBN 0-397-58418-0
- Physicians' Guide to Rare Diseases, 2nd ed. (1995). ISBN 0-9628716-1-3
- medlineplus
External links
Eponymous diseases | Genetic disorders
Syndrome d'Aarskog | Aarskogs syndrom | SÃndrome de Aarskog
"Aarskog syndrome"