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Cornelia de Lange syndrome
Pathology:
1) ventricular septal defect
2) micromelia
3) synophrys
4) mental & growth deficiency
5) pyloric stenosis
6) congenital diaphragmatic hernias
Genetics:
1) X-linked, associated with defects in SMC1L1 gene
2) defects in NIPBL gene account for 50% of cases
Clinical manifestations:
1) facial dysmorphisms
2) upper limb abnormalities
3) growth delay
4) cognitive retardation
5) hirsutism
6) hearing loss
7) autistic & self-injurious tendencies frequent
Specific
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
General
developmental disorder
syndrome
Database Correlations
OMIM 122470
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
- UniProt :accession Q14683