Short rib polydactyly syndrome, type 1

SYD: 16




Short rib polydactyly syndrome, type 1

Description: Short rib polydactyly syndromes are lethal forms of skeletal dysplasia, characterized by thoracic hypoplasia, polydactyly and shortening of the long bones. Three types of the disorder were described: Type I: described by Saldino and Noonan in 1972 without facial dysmorphism Type II: described by Majewski in 1971, with clef lip & palate,facial dysmorphism Type III: described by Naumoff in 1977 Clinical, radiographic and morphologic studies suggest that types I and III just represent phenotypic variations of the same disorder.


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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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