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Spondyloenchondrodysplasia

Known as: Spondyloenchondromatosis, Spondylometaphyseal dysplasia with enchondromatous changes 
National Institutes of Health

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Broader (2)

Autoimmune DiseasesOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management.
We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony… 
Review
2016
Review
2016
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5… 
2015
2015
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment… 
2014
2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
2008
2008
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation
Although the diagnosis of spondyloenchondrodysplasia (SPENCD) can only be made in the presence of characteristic metaphyseal and… 
Review
2006
Review
2006
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Enchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is… 
Review
2005
Review
2005
Autosomal dominant inheritance of spondyloenchondrodysplasia
Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an… 
2004
2004
Spondyloenchondrodysplasia: Clinical variability in three cases
Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long… 
2000
2000
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis
Abstract D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically… 
1995
1995
Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.
We present case details and depict the phenotypic manifestations of a dwarfing skeletal dysplasia in an adolescent boy who was… 
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