Dyssegmental Dysplasia, Rolland-Desbuquois Type

Alternative Names

  • DDRD
  • Dyssegmental Dwarfism, Rolland-Desbuquois Type
  • Anisospondylic Camptomicromelic Dwarfism, Rolland-Desbuquois Type
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

224400

Mode of Inheritance

Autosomal recessive

Description

Rolland-Desbuquois Type is a milder form of Dyssegmental Dysplasia. It is characterised by increased variability in the size of vertebral bodies and abnormal shortening of limbs.

Epidemiology in the Arab World

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Other Reports

Jordan

Miething et al. (1981) reported two cases of dyssegmental dysplasia with Pierre-Robin-Syndrome, Camptomicromelia and Anisospondyly. The newborns died of asphyxia post delivery.

Svejcar (1983) reported abnormal gel electrophoretic patterns of collagen peptides in a patient with dyssegmental dysplasia indicating a deficiency in alpha-1 chains.

Lebanon

Prabhu et al (1998) reported a newborn with dyssegmental dysplasia most compatible with Silverman-Handmaker type. The parents were first cousins and of Druze Lebanese ethnicity. Although the infant displayed DDSH features, prolonged survival, abnormalities of the eyes and the CNS indicated the representation of an intermediate phenotype between DDSH and dyssegmental dysplasia Rolland-Desbuquois type.

Palestine

[See also: Jordan > Svejcar (1983)].

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