Intellectual disability-developmental delay-contractures syndrome

Alternate names

Contractures of feet, muscle atrophy, and oculomotor apraxia; Apraxia, oculomotor, with congenital contractures and muscle atrophy; Wieacker Wolff syndrome; WWS; Wieacker syndrome

Definition

Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue.

Cause

Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene.

Inheritance

X-linked recessive inheritance

It is inherited in an X-linked recessive fashion.

Signs and symptoms

It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures.

Clinical presentation

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 movement(Movement disorder)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Congenital foot contractures
• Distal amyotrophy(Distal muscle wasting)
• Global developmental delay
• Intellectual disability, mild(Mental retardation, borderline-mild)
• Limitation of joint mobility(Decreased joint mobility)
• Neurological speech impairment(Speech disorder)
• Oculomotor apraxia

5%-29% of people have these symptoms

• Kyphosis(Hunched back)
• Ptosis(Drooping upper eyelid)
• Scoliosis
• Strabismus(Cross-eyed)

Treatment

• There is no known cure for intellectual disability-developmental delay-contractures syndrome.
• Treatment is symptomatic and supportive.

NIH genetic and rare disease info

• NIH info on Intellectual disability-developmental delay-contractures syndrome

Intellectual disability-developmental delay-contractures syndrome is a rare disease.