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Lethal Kniest-like dysplasia

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q77.8
  • C1855605
  • C537208
MedDRA -


Disease definition

Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.

Differential diagnosis

This syndrome radiologically and histologically resembles Kniest dysplasia but differs in clinical course and inheritance.

Genetic counseling

Transmission is likely to be autosomal recessive.


Both patients died in the neonatal period.

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