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Schneckenbecken dysplasia

Disease definition

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

ORPHA:3144

Classification level: Disorder
  • Synonym(s):
    • Chondrodysplasia with snail-like pelvis
    • SLC35D1-CDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 269250
  • UMLS: C0432194
  • MeSH: C536637
  • GARD: 169
  • MedDRA: -

Summary

Epidemiology

Less than 20 cases have been reported in the literature so far.

Clinical description

The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.

Etiology

This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)

Genetic counseling

Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.

- Last update: September 2009

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

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.