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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-11-2013
Symbol CDLSX
Location Xp11.22
Name Cornelia de Lange syndrome, X-linked
Corresponding gene SMC1A
Main clinical features
  • arched eyebrows, synophrys, and long eyelashes, thin lips, small hands and feet, proximally set thumbs, fifth finger clinodactyly, restriction of elbow movements, and hirsutism, in addition to high nasal bridge and high palate
  • multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation, mental retardation
  • consistently milder phenotype as CDLS
  • Genetic determination sex linked
    Prevalence 5p100 of all Cornelia De Lange syndromes, mutation of SMC1L1 and SMC3 in 5p100 of cases
    Function/system disorder mental retardation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense     in the head domain positioned near the Walker A, B, and signature/C motifs that could affect ATP binding, ATP hydrolysis, and/or SMC1/SMC3 head-domain dimerization, an ATP-dependent process
  • mutations affect the dynamic association between SMC proteins and DNA, providing new clues to the underlying molecular cause of CdLS (Revenkova 2009)
  • cells derived from CDLSX patients do not respond to retinoic acid (RA) signaling as efficiently as healthy controls (PMID: 28752682))