Cornelia de lange syndrome 1

Preferred Label : Cornelia de lange syndrome 1;

Symbol : CDLS1;

CISMeF acronym : CDLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Typus degenerativus amstelodamensis; BDLS; CDLS; De lange syndrome; Cdl; Brachmann-de lange syndrome;

Description : The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010). - Genetic Heterogeneity of Cornelia de Lange Syndrome About 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010). One X-linked form of CDLS (CDLS2; 300590) is caused by mutation in the SMC1A gene (300040), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (610759), caused by mutation in the SMC3 gene (606062), and CDLS4 (614701), caused by mutation in the RAD21 gene (606462). All 4 genes,;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Nipped-B-like gene (NIPBL, 608667.0001);

Prefixed ID : #122470;

Details

Origin ID

122470;

UMLS CUI

C4551851;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- De Lange syndrome [PASCAL descriptor]
- De Lange's syndrome [MedDRA LLT]
- NIPBL wt Allele [NCIt concept]
Broader ORDO disease(s)
- Cornelia de Lange syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cornelia de Lange syndrome 1 [DO Concept]
DO Cross reference
- Cornelia de Lange syndrome 1 [DO Concept]
Genes related to phenotype
- Nipped-b-like [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormal incisura morphology [HPO term]
- Abnormal renal morphology [HPO term]
- Abnormal umbilicus morphology [HPO term]
- Abnormality of renal physiology [HPO term]
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachycephaly [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Curly eyelashes [HPO term]
- Cutis marmorata [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Downturned corners of mouth [HPO term]
- Duplication of internal organs [HPO term]
- Ectopic kidney [HPO term]
- Elbow flexion contracture [HPO term]
- Flattened nasal bridge [HPO term]
- Gastroesophageal reflux [HPO term]
- Hand oligodactyly [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Hypoplastic male genitalia [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic radial head [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Limited elbow extension [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Long, curly eyelashes [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Malrotation of colon [HPO term]
- Microbrachycephaly [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic disc coloboma [HPO term]
- Otitis media [HPO term]
- Phocomelia [HPO term]
- Pneumonia [HPO term]
- Prenatal growth deficiency [HPO term]
- Proptosis [HPO term]
- Proteinuria [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Pyloric stenosis [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short sternum [HPO term]
- Single transverse palmar crease [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Structural anomalies of the renal tract [HPO term]
- Supernumerary ribs [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Weak cry [HPO term]
- Widely spaced teeth [HPO term]
- broad, bushy eyebrows [HPO term]
ORDO concept(s)
- Cornelia de Lange syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ACR pathology]
- De Lange syndrome (disorder) [SNOMED CT concept]
- de lange syndrome [SNOMED Notion]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- de lange's syndrome [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ORDO Disease]
- De Lange syndrome (disorder) [SNOMED CT concept]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- de lange syndrome [SNOMED Notion]
- de lange's syndrome [MedDRA Preferred Term]

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