Prab at 17:28, 18 March 2025

2025-03-18T17:28:52Z

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Deepika vegiraju: Created page with "== '''Alternate names''' == Contractures of feet, muscle atrophy, and oculomotor apraxia; Apraxia, oculomotor, with congenital contractures and muscle atrophy; Wieacker Wolff..."

2021-03-30T12:51:45Z

Created page with "== '''Alternate names''' == Contractures of feet, muscle atrophy, and oculomotor apraxia; Apraxia, oculomotor, with congenital contractures and muscle atrophy; Wieacker Wolff..."

New page

== '''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 [[contracture]]s 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''' ==
[[File:X-linked recessive (2).svg|thumb|right|upright=1.75|X-linked recessive inheritance]]
It is inherited in an [[X-linked recessive]] fashion.

== '''Signs and symptoms''' ==
It is characterized by [[contracture]]s 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 [[contracture]]s
* 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)

== '''Diagnosis''' ==

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

[[Category:Rare diseases]]
[[Category:X-linked recessive disorders]]
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Intellectual disability-developmental delay-contractures syndrome - Revision history

Prab at 17:28, 18 March 2025

Prab: CSV import

Deepika vegiraju: Created page with "== '''Alternate names''' == Contractures of feet, muscle atrophy, and oculomotor apraxia; Apraxia, oculomotor, with congenital contractures and muscle atrophy; Wieacker Wolff..."