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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-12-2019
Location 15q26.1
Name spondyloepimetaphyseal dysplasia, aggrecan type
Corresponding gene ACAN
Main clinical features
  • spondyloepimetaphyseal dysplasia characterized by severe short stature
  • craniofacial abnormalities included relative macrocephaly, severe midface hypoplasia with almost absent nasal cartilage, relative prognathism, and slightly low-set, posteriorly rotated ears
  • short necks and barrel chests and a mild lumbar lordosis
  • radiographic features included long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees; platyspondyly; and multiple cervical-vertebral clefts
  • hand findings included significant brachydactyly with short, broad thumbs, horizontal nails, and telescoping interphalangeal joints
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease