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GENATLAS PHENOTYPE
last update : 16-09-2015
Symbol SRPS8
Location 5q23.2
Name short rib-polydactyly syndrome, type VIII
Other name(s) short-rib thoracic dysplasia 13
Corresponding gene CEP120
Other symbol(s) SRTD13
Main clinical features
  • early death of respiratory failure within the first week of life, and small thorax with short horizontal ribs, dysplastic pelvis, short long bones, and preaxial polydactyly or synpolydactyly
  • extraskeletal features included increased renal echogenicity and hypoplastic cerebellum
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)