MCID: SPN141
MIFTS: 25
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Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Categories:
Bone diseases, Eye diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
Characteristics:Inheritance:
Autosomal dominant 57
Prevelance:
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome:
Infancy,Neonatal 58
Classifications:
ICD10:
32
Orphanet: 58
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GARD: 19 Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). MalaCards based summary: Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, also known as sed-bds, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and brachydactyly. Affiliated tissues include bone and lung, and related phenotypes are short neck and delayed skeletal maturation Orphanet: 58 Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). Disease Ontology: 11 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
More information from OMIM:
611717
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Diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:![]() |
Human phenotypes related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:58 30 (show top 50) (show all 64)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:611717 (Updated 08-Dec-2022) |
Cochrane evidence based reviews: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
Organs/tissues related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
MalaCards :
Bone,
Lung
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Articles related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
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Search
GEO
for disease gene expression data for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech.
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