Acrodysostosis

Definition

Definition of Acrodysostosis
Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back i.e., small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

Symptoms

Symptoms of Acrodysostosis

1. Frequent middle ear infections
2. Growth problems, short arms and legs
3. Hearing problems
4. Mental deficiency
5. Unusual looking fact

Causes

Causes of Acrodysostosis
Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.

Diagnosis

Diagnosis of Acrodysostosis
Findings may include:

1. Advanced bone age
2. Bone deformities in hands and feet
3. Delays in growth
4. Problems with the skin, genitals, teeth, and skeleton
5. Short arms and legs with small hands and feet
6. Short head, measured front to back (brachycephaly)
7. Short height
8. Small, upturned broad nose with flat bridge
9. Unusual features of the face (short nose, open mouth, jaw that sticks out)
10. Unusual head
11. Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye

Prognosis

Prognosis of Acrodysostosis
Consult with your doctor.

Treatment

Treatment of Acrodysostosis
Treatment depends on the physical and mental problems that occur. Orthopedic care, early intervention, and special education are recommended.

Prevention

Prevention of Acrodysostosis
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.