Cornelia de lange syndrome 5

Preferred Label : Cornelia de lange syndrome 5;

Symbol : CDLS5;

CISMeF acronym : CDLS5;

Type : Phenotype, molecular basis known;

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 60% of patients have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (300040) (CDLS2; 300590) (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 histone deacetylase 8 gene (HDAC8, 300269.0002);

Prefixed ID : #300882;

Détails

Origin ID

300882;

UMLS CUI

C3550903;

Currated CISMeF NLP mapping
- Cornelia de Lange syndrome 5 [DO Concept]
DO Cross reference
- Cornelia de Lange syndrome 5 [DO Concept]
Genes related to phenotype
- Histone deacetylase 8 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Behavioral abnormality [HPO term]
- Brachycephaly [HPO term]
- Broad nasal tip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Decreased testicular size [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Limited elbow extension [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Nevus [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nasal bridge [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Truncal obesity [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Cornelia de Lange syndrome [ORDO Disease]
See also inter- (CISMeF)
- HDAC8 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cornelia de Lange syndrome [DO Concept]

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