SEDN
MCID: SPN228
MIFTS: 21
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Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Nishimura Type:
Characteristics:Orphanet epidemiological data:58
spondyloepiphyseal dysplasia, nishimura type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses (Grigelioniene et al., 2019). (618618)
MalaCards based summary : Spondyloepiphyseal Dysplasia, Nishimura Type, is also known as spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome. An important gene associated with Spondyloepiphyseal Dysplasia, Nishimura Type is MIR140 (MicroRNA 140). Affiliated tissues include bone and skeletal muscle, and related phenotypes are cataract and global developmental delay |
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Human phenotypes related to Spondyloepiphyseal Dysplasia, Nishimura Type:58 31 (show all 41)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618618 |
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Nishimura Type:40
Bone,
Skeletal Muscle
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Articles related to Spondyloepiphyseal Dysplasia, Nishimura Type:
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ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Nishimura Type:6
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GEO
for disease gene expression data for Spondyloepiphyseal Dysplasia, Nishimura Type.
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