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GENATLAS PHENOTYPE
last update : 02-12-2009
Symbol CPVS
Location 19q13.2
Name craniofacial anomalies, severe pulmonary and visceral involvement, and skin laxity
Other name(s)
  • cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities/
  • Urban-Rifkin-Davis syndrome
    • Corresponding gene LTBP4
    Other symbol(s) URDS
    Main clinical features
  • syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development
  • severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia, pulmonary artery stenosis and patent foramen ovale, diverticulosis, enlargement, tortuosity, and stenosis at various levels of the intestinal tract, hydronephrosis, joint laxity and low muscle tone contributed to musculoskeletal problems compounded by postnatal growth delay
  • craniofacial features included microretrognathia, flat midface, receding forehead, and wide fontanelles associated to cutis laxa
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    kidney and urinary tract
    cardiovascular
    Type disease
    Remark(s) . mutations led to premature termination of translation and destabilization of the LTBP4 mRNA with impaired synthesis and lack of deposition of LTBP4 into the extracellular matrix (ECM) leading to altered production of active TGF- beta and disorganization of elastic fibers (Urban 2009)