Short rib-polydactyly syndrome, Verma-Naumoff type

Orpha code: 93271OMIM code: 615633

Definicja

A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Short rib-polydactyly syndrome type 3
Zespół krótkie żebro-polidaktylia typu 3
Kod ORPHA
93271
Kod OMIM
615633
Kod ICD10
Q77.2
Kod ICD11
-

No additional description.

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