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Diaphanospondylodysostosis

Disease definition

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

ORPHA:66637

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • ICD-11: LD24.5Y
  • OMIM: 608022
  • UMLS: C1842691
  • MeSH: C564305
  • GARD: -
  • MedDRA: -

Summary

Genetic counseling

As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait.

Prognosis

The patients are stillborn or die soon after birth of respiratory insufficiency.

- Last update: December 2006

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

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.