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GTR Home > Conditions/Phenotypes > Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Synonyms
Spondylometaphyseal dysplasia, megarbane-dagher-melki type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. [from ORDO]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16, PAM16
    Summary: presequence translocase associated motor 16

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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