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Spondyloepiphyseal dysplasia, Maroteaux type

Disease definition

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

ORPHA:263482

Classification level: Disorder
  • Synonym(s):
    • Pseudo-Morquio syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 184095
  • UMLS: C3159322
  • MeSH: -
  • GARD: 994
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012) Greek (2012, pdf)

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.