Short-rib thoracic dysplasia 20 with polydactyly

MONDO:0044328

A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.

Also known as: short-rib thoracic dysplasia 20 with polydactyly, SRTD20

1 clinical trial for this condition and its sub-types, 0 tagged with Short-rib thoracic dysplasia 20 with polydactyly itself.

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↑ Jeune syndrome (2) ↑ INTU-related skeletal ciliopathy (0)

Including sub-types (1) Tagged with Short-rib thoracic dysplasia 20 with polydactyly (0)

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