Koolen-de vries syndrome

Preferred Label : Koolen-de vries syndrome;

Symbol : KDVS;

CISMeF acronym : KDVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17q21.31 deletion syndrome; Microdeletion 17q21.31 syndrome;

Description : Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by microdeletion (600-800kb) of chromosome 17q21.31 encompassing genes CRHR1 (122561), MAPT (157140), STH (607067), IMP5 (608284), and KANSL1 (612452); Caused by mutation in the KAT8 regulatory NSL complex subunit 1 gene (KANSL1, 612452.0001);

Prefixed ID : #610443;

Details

Origin ID

610443;

UMLS CUI

C1864871;

Currated CISMeF NLP mapping
- Koolen De Vries syndrome (disorder) [SNOMED CT concept]
- Koolen de Vries syndrome [DO Concept]
- Koolen-De Vries syndrome [DO Concept]
- Koolen-De Vries syndrome [ORDO Disease]
DO Cross reference
- Koolen de Vries syndrome [DO Concept]
Genes related to phenotype
- Kat8 regulatory nsl complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Anteverted ears [HPO term]
- Anxiety [HPO term]
- Aortic root aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Blepharophimosis [HPO term]
- Broad chin [HPO term]
- Broad forehead [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conspicuously happy disposition [HPO term]
- Contiguous gene syndrome [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dry skin [HPO term]
- Eczema [HPO term]
- Epicanthus [HPO term]
- Epilepsy [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Fair hair [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hydronephrosis [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Hypotrophy of the small hand muscles [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris hypopigmentation [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Laryngomalacia [HPO term]
- Long face [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Morphological abnormality of the central nervous system [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Narrow palate [HPO term]
- Narrow palm [HPO term]
- Nasal speech [HPO term]
- Open mouth [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Pear-shaped nose [HPO term]
- Pectus excavatum [HPO term]
- Poor speech [HPO term]
- Positional foot deformity [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent metopic ridge [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Ridging of metopic suture [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Small for gestational age [HPO term]
- Speech delay [HPO term]
- Spondylolisthesis [HPO term]
- Strabismus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vertebral fusion [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide intermamillary distance [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- 17q21.31 microdeletion syndrome [ORDO Disease]
- Koolen-De Vries syndrome [ORDO Disease]
See also inter- (CISMeF)
- 17q21 Microdeletion Syndrome [NCIt concept]
- 17q21.31 deletion [ICD-11 More detail]
- 17q21.31 microdeletion syndrome [ORDO Disease]
- chromosome 17q21.31 deletion syndrome [MeSH Supplementary Concept]
- chromosome 17q21.31 deletion syndrome [MeSH concept]
- chromosome 17q21.31 deletion syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17q21.31 microdeletion syndrome [ORDO Disease]
- Koolen De Vries syndrome (disorder) [SNOMED CT concept]
- Koolen-De Vries syndrome [ORDO Disease]
- chromosome 17q21.31 deletion syndrome [MeSH Supplementary Concept]
- chromosome 17q21.31 deletion syndrome [MeSH concept]

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