Orphanet: Spondyloepimetaphyseal dysplasia, aggrecan type
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Spondyloepimetaphyseal dysplasia, aggrecan type

Disease definition

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

ORPHA:171866

Classification level: Disorder
  • Synonym(s):
    • SEMD, aggrecan type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • OMIM: 612813
  • UMLS: C2748544
  • MeSH: -
  • GARD: 10513
  • MedDRA: -

Summary

Epidemiology

To date, three cases have been described, all originating from the same family.

Clinical description

Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly.

Etiology

The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive.

- Last update: October 2009

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.