MCID: SPN141
MIFTS: 23
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Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
Characteristics:Orphanet epidemiological data:58
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163654DefinitionSpondyloepiphyseal 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).Visit the Orphanet disease page for more resources.
MalaCards based summary : Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech, also known as sed-bds, is related to acromicric dysplasia and odontochondrodysplasia. Affiliated tissues include bone and lung, and related phenotypes are short neck and delayed skeletal maturation
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:
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Human phenotypes related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:58 31 (show top 50) (show all 65)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:611717 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:40
Bone,
Lung
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Articles related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
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for disease gene expression data for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech.
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