Wieacker-wolff syndrome

Preferred Label : Wieacker-wolff syndrome;

Symbol : WRWF;

CISMeF acronym : MCS; MRXS4; WRWF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with congenital contractures and low fingertip arches; MRXS4; Contractures of feet, muscle atrophy, and oculomotor apraxia; Miles-carpenter X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 4; MCS; Wieacker syndrome; Apraxia, oculomotor, with congenital contractures and muscle atrophy;

Description : Wieacker-Wolff syndrome 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). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the zinc finger C4H2 domain-containing protein gene (ZC4H2, 300897.0001);

Prefixed ID : #314580;

Détails

Origin ID

314580;

UMLS CUI

C0796200;

Automatic exact mappings (from CISMeF team)
- Mast Cell Sarcoma [NCIt concept]
- Mechanical Circulatory Support [NCIt concept]
- Miles-Carpenter syndrome [DO Concept]
- Miles-Carpenter x-linked mental retardation syndrome [MeSH concept]
- organelle membrane contact site [GO term]
CISMeF manual mappings
- Intellectual disability, developmental delay, contracture syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
- Wieacker syndrome [MeSH concept]
- wieacker syndrome [MeSH Supplementary Concept]
DO Cross reference
- Miles-Carpenter syndrome [DO Concept]
Genes related to phenotype
- Zinc finger c4h2 domain-containing protein [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Apnea [HPO term]
- Apraxia [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Broad alveolar ridges [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Congenital foot contractures [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Distal amyotrophy [HPO term]
- Drooling [HPO term]
- Dystonia [HPO term]
- Exotropia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hyperlordosis [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Muscle weakness [HPO term]
- Narrow chest [HPO term]
- Neonatal respiratory distress [HPO term]
- Oculomotor apraxia [HPO term]
- Palmar hyperkeratosis [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
- X-linked intellectual disability, Miles-Carpenter type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, developmental delay, contracture syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-developmental delay-contractures syndrome [ORDO Disease]
- Wieacker syndrome [MeSH concept]
- wieacker syndrome [MeSH Supplementary Concept]

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