Kniest like dysplasia lethal
Alternate names[edit | edit source]
Lethal Kniest-like dysplasia; Arthrosis, flat face, hypotonia, short neck and macrocephaly
Definition[edit | edit source]
A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.
NIH genetic and rare disease info[edit source]
Kniest like dysplasia lethal is a rare disease.
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