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Spondylodysplastic Ehlers-Danlos syndrome

Disease definition

A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.

ORPHA:536471

Classification level: Disorder
  • Synonym(s):
    • Spondylodysplastic EDS
    • spEDS
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q79.6
  • ICD-11: LD28.1Y
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Nederlands (2020) Français (2019) Italiano (2019)

Detailed information

Guidelines

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.