Intellectual disability-developmental delay-contractures syndrome

From WikiMD's Wellness Encyclopedia

Alternate names[edit | edit source]

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

Definition[edit | edit source]

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[edit | edit source]

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

Inheritance[edit | edit source]

X-linked recessive inheritance

It is inherited in an X-linked recessive fashion.

Signs and symptoms[edit | edit source]

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[edit | edit source]

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

5%-29% of people have these symptoms

Diagnosis[edit | edit source]

Treatment[edit | edit source]

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

NIH genetic and rare disease info[edit source]

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


Intellectual disability-developmental delay-contractures syndrome Resources
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