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References OMIM Gene GeneReviews HGMD HGNC
last update : 31-03-2015
Symbol ARCL1C
Location 19q13.2
Name cutis laxa, autosomal recessive, type IC
Corresponding gene LTBP4
Main clinical features
  • generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development
  • respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia
  • 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
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    digestive tract/gastrointestinal
    Type disease