Schneckenbecken dysplasia
Alternate names[edit | edit source]
Chondrodysplasia lethal neonatal with snail like pelvis
Definition[edit | edit source]
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Epidemiology[edit | edit source]
Less than 20 cases have been reported in the literature so far.
Cause[edit | edit source]
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)
Inheritance[edit | edit source]
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.
Signs and symptoms[edit | edit source]
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Schneckenbecken dysplasia is a rare disease.
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