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GTR Home > Conditions/Phenotypes > Schneckenbecken dysplasia

Schneckenbecken dysplasia

Synonyms
Chondrodysplasia lethal neonatal with snail like pelvis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SHNKND, UGTREL7, SLC35D1
    Summary: solute carrier family 35 member D1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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