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GTR Home > Conditions/Phenotypes > Diaphanospondylodysostosis

Diaphanospondylodysostosis

Synonyms
VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRIM3, CV-2, CV2, BMPER
    Summary: BMP binding endothelial regulator

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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