SMMD
MCID: SPN208
MIFTS: 27
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:Characteristics:Orphanet epidemiological data:58
spondylo-megaepiphyseal-metaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009). (613330)
MalaCards based summary : Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to metaphyseal dysplasia and cleidocranial dysplasia. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are hypertelorism and short neck KEGG : 36 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait. UniProtKB/Swiss-Prot : 73 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. |
Diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:![]() |
Human phenotypes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613330 |
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MalaCards organs/tissues related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:40
Bone
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Articles related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:
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ClinVar genetic disease variations for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:6
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Search
GEO
for disease gene expression data for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia.
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