Williams-beuren region duplication syndrome

Preferred Label : Williams-beuren region duplication syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Wbs duplication syndrome; Chromosome 7q11.23 duplication syndrome; Somerville-van der aa syndrome;

Included titles and symbols : Wbs triplication syndrome; Chromosome 7q11.23 triplication syndrome;

Description : The chromosome 7q11.23 duplication syndrome is a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies, and an increased incidence of congenital anomalies such as heart defects, diaphragmatic hernia, and cryptorchidism. Many patients have cognitive defects ranging from mental retardation to autism, although some have normal cognitive abilities (summary by Van der Aa et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 1.5 to 1.8 Mb on chromosome 7q11.23;

Prefixed ID : #609757;

Details

Origin ID

609757;

UMLS CUI

C1857844;

Currated CISMeF NLP mapping
- 7q11.23 duplication [ICD-11 More detail]
- 7q11.23 microduplication syndrome [ORDO Disease]
- 7q11.23 microduplication syndrome (disorder) [SNOMED CT concept]
- Williams-Beuren Region Duplication Syndrome [NCIt concept]
- Williams-Beuren region duplication syndrome [MeSH concept]
- Williams-Beuren region duplication syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chronic constipation [HPO term]
- Chronic otitis media [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Diastema [HPO term]
- Facial asymmetry [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Horizontal eyebrow [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Long eyelashes [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- 7q11.23 microduplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 7q11.23 microduplication syndrome [ORDO Disease]
- Williams-Beuren Region Duplication Syndrome [NCIt concept]
- Williams-Beuren region duplication syndrome [MeSH Supplementary Concept]
- Williams-Beuren region duplication syndrome [MeSH concept]

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