Aarskog Syndrome – Symptoms and Treatment

Aarskog syndrome is a rare genetic disorder manifested by retarded growth that occurs by three years of age, facial, musculoskeletal and genital anomalies, and mild intellectual disability.

The disorder occurs in 1 in 1 million individuals in the general population. Some mild cases often go unrecognized.

Causes of Aarskog Syndrome

Aarskog syndrome is transmitted as an X-linked recessive trait.

Aarskog syndrome primarily affects males. However, females who carry a single copy of the disease gene (only one x chromosome is affected) may exhibit some of the symptoms associated with the disorder. The syndrome is caused by mutation in a gene called FGDY1 in band p11.21 on the X chromosome.

Signs & Symptoms of Aarskog Syndrome

The patients of Aarskog syndrome are primarily males who exhibit deformities of face, skeleton, and genitalia. In some cases, female carriers may develop a mild form of the disorder.

Symptoms and severity vary from person to person.

Facial Abnormalities

• Rounded face with a broad forehead
• Widely spaced eyes (hypertelorism)
• Drooping of the eyelids (ptosis)
• Downwardly slanting eyelid folds
• Small nose with nostrils that are flared forward (anteverted nares)
• Upper jaw bone is underdeveloped (maxillary hypoplasia)
• Widow’s peak
• Abnormally long groove in the upper lip (philtrum)
• Broad nasal bridge.
• Low-set ears and thickened, fleshy earlobes.
• Delayed eruption of teeth
• Underdevelopment of the hard outer covering of teeth (enamel hypoplasia).

Skeletal System

• Disproportionate short stature
• Broad, short hands and feet
• Short, stubby fingers (brachydactyly)
• Clinodactyly – Permanent fixation of the fifth fingers in a bent position
• Hyperextensible finger joints
• Wide flat feet with bulbous toes
• Sunken chest (pectus excavatum)
• Hernias
• Prominent navel (umbilicus).
• Spinal abnormalities ( in about 50% patients)
  • Spina bifida occulta
  • Cervical vertebrae fusion
  • Odontoid hypoplasia

Genital Abnormalities

• Shawl Scrotum – An abnormal fold of skin extending around the base of the penis
• Undescended testes or cryptorchidism
• Hypospadias – the urinary opening (meatus) may be located on the underside of the penis (hypospadias)
• The scrotum may appear clefted or divided (bifid scrotum).

Intellectual Disabilities

• Hyperactivity
• Weight gain failure
• Failure to thrive
• Chronic respiratory infections

Other Symptoms

• Congenital heart defects
• Scoliosis
• Extra ribs
• Cleft palate/ lip
• Mild webbing of the fingers
• Short neck with or without webbing
• Strabismus- crossed eyes
• Farsightedness (hypermetropia)
• Paralysis of certain eye muscles (ophthalmoplegia).

Differential Diagnoses

Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:

• Noonan syndrome
• Robinow syndrome
• LEOPARD Syndrome

Diagnosis of Aaskorg Syndrome

A diagnosis of Aarskog syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings. X-ray studies can identify the distinctive characteristics of Aarskog syndrome and help to differentiate it from similar disorders.

Treatment of Aaskorg Syndrome

The treatment of Aarskog syndrome depends on the symptoms present and requires multispecialty interdisciplinary approach. Following specialties are generally involved in diagnosis and treatment of Asrskog syndrome.

• Pediatricians
• Surgeons
• Cardiologists
• Dental specialists
• Speech pathologists
• Audiologists
• Eye specialists
• Other health care professionals

Apart from symptomatic and supportive treatment, surgery may also be required for deformity correction or addressing the malformation.

Genetic counseling may be of benefit for affected individuals and their families.

Help Resources for Aarskog Syndrome

Children’s Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240 USA

Phone: (214) 570-9099

Toll-free: (800) 535-3643

Website: http://www.ccakids.com

Aarskog Syndrome Parents Support Group

62 Robin Hill Lane

Levittown, PA 19055-1411

Phone: (215) 943-7131

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Phone: (301) 251-4925

Toll-free: (888) 205-2311

Website: http://rarediseases.info.nih.gov/GARD/

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Phone: (708) 383-0808

Toll-free: (800) 362-4423

Website: http://www.magicfoundation.org

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Phone: (914) 997-4488

Website: http://www.marchofdimes.com

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675 USA

Phone: (301) 495-4484

Toll-free: (877) 226-4267

Website: http://www.niams.nih.gov/

Aarskog syndrome is also known as

• Aarskog disease
• Aarskog-Scott syndrome
• Faciodigitogenital syndrome
• Faciogenital dysplasia
• Scott Aarskog syndrome
• Shawl scrotum syndrome