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Greenberg dysplasia

Synonyms
Autosomal recessive lethal chondrodystrophy with congenital hydrops; CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE; Greenberg skeletal dysplasia; HEM SKELETAL DYSPLASIA; HEM dysplasia; HEM/Greenberg dysplasia; Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia; MOTH-EATEN SKELETAL DYSPLASIA
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia. [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18, LBR
    Summary: lamin B receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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