Cornelia de lange syndrome 2

Preferred Label : Cornelia de lange syndrome 2;

Symbol : CDLS2;

CISMeF acronym : CDLS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdls, X-linked; Cornelia de lange syndrome, X-linked;

Description : Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the structural maintenance of chromosomes 1A gene (SMC1A, 300040.0001);

Prefixed ID : #300590;

Details

Origin ID

300590;

UMLS CUI

C1802395;

Broader ORDO disease(s)
- Cornelia de Lange syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cornelia de Lange syndrome 2 [DO Concept]
- X-Linked Cornelia De Lange Syndrome [NCIt concept]
- cornelia de lange syndrome 2 [MeSH concept]
DO Cross reference
- Cornelia de Lange syndrome 2 [DO Concept]
Genes related to phenotype
- Structural maintenance of chromosomes 1a [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Cognitive impairment [HPO term]
- Cutis marmorata [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Limited elbow movement [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Poor speech [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nasal bridge [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Cornelia de Lange syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular hypertrophy-cerebral syndrome (disorder) [SNOMED CT concept]
- X-Linked Cornelia De Lange Syndrome [NCIt concept]
- congenital muscular hypertrophy-cerebral syndrome [SNOMED Notion]
- cornelia de lange syndrome 2 [MeSH concept]
Validated automatic mappings to NTBT
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ORDO Disease]
- de lange syndrome [MeSH Descriptor]

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