Short rib-polydactyly syndrome, Verma-Naumoff type

Orpha code: 93271OMIM code: 615633

Definition

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
Classification

Malformation syndrome

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

No additional description.

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