Hydrocephalus-cleft palate-joint contractures syndrome

Other Names: Aase-Smith syndrome I; Joint contractures with other abnormalities

Hydrocephalus-cleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or "frozen" joints (contractures).

Epidemiology

Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported.

Cause

Some cases of Aase syndrome (45%) have been shown to be inherited, and are due to a change in one gene which makes ribosomal proteins. However, many cases are not inherited and occur without a known cause.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

It is likely genetic due to reports of affected family members and likely autosomal dominant inheritance.

Signs and symptoms

Symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of the hip bone(Abnormality of the hips)
• Abnormality of the pinna(Abnormally shaped ears)
• Camptodactyly of finger(Permanent flexion of the finger)
• Cleft palate(Cleft roof of mouth)
• Dandy-Walker malformation
• Joint stiffness(Stiff joint)
• Multiple joint contractures
• Scoliosis
• Trismus(Lockjaw)

30%-79% of people have these symptoms

• Aplasia/Hypoplasia of the radius
• Talipes equinovarus(Club feet)

5%-29% of people have these symptoms

• Neoplasm
• Slender finger(Narrow fingers)
• Strabismus(Cross-eyed)

Diagnosis

• A CBC (complete blood count) will show anemia and a decrease in the white blood cell count.
• An echocardiogram may reveal heart defects (ventricular septal defect is most common).
• X-rays will show skeletal abnormalities as described above.
• A bone marrow biopsy may be performed.

Treatment

Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot. Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

NIH genetic and rare disease info

• NIH info on Hydrocephalus-cleft palate-joint contractures syndrome

Hydrocephalus-cleft palate-joint contractures syndrome is a rare disease.