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GTR Home > Conditions/Phenotypes > Autosomal recessive omodysplasia

Autosomal recessive omodysplasia

Synonyms
MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS; Micromelic dysplasia congenita with dislocation of radius; Omodysplasia 1; Omodysplasia generalized form
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of Omodysplasia Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994). [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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