Lethal Kniest-like dysplasia

MONDO:0009498

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.

Also known as: Kniest like dysplasia lethal, Kniest-like dysplasia, lethal, arthrosis, flat face, hypotonia, short neck and macrocephaly

0 clinical trials for this condition and its sub-types, 0 tagged with Lethal Kniest-like dysplasia itself.

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Including sub-types (0) Tagged with Lethal Kniest-like dysplasia (0)

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