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Wieacker-Wolff syndrome

Synonyms
Apraxia, oculomotor, with congenital contractures and muscle atrophy; Contractures of feet, muscle atrophy, and oculomotor apraxia; Intellectual disability-developmental delay-contractures syndrome; Mental retardation, X-linked, syndromic 4; Mental retardation, X-linked, with congenital contractures and low fingertip arches; Miles-Carpenter syndrome; Wieacker syndrome; Wieacker-Wolff, X-linked recessive
Modes of inheritance
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth. Affected boys are born with severe contractures, show delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and foot deformities. Additional features include global developmental delay with poor or absent speech and impaired intellectual development, feeding difficulties and poor growth, hypotonia, hypogenitalism, and spasticity. Carrier females may be unaffected or have mild features of the disorder (summary by Hirata et al., 2013 and Frints et al., 2019). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HCA127, KIAA1166, MCS, MRXS4, WRWF, WRWFFR, WWS, ZC4H2
    Summary: zinc finger C4H2-type containing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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