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MCID: SPN141
MIFTS: 22
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Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Categories:
Rare diseases, Bone diseases, Fetal diseases
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MalaCards integrated aliases for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:
Characteristics:Orphanet epidemiological data:59
spondyloepiphyseal dysplasia, cantu type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163654Disease definitionSpondyloepiphyseal 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, is also known as sed-bds. Affiliated tissues include bone, eye and lung, and related phenotypes are short neck and pectus excavatum
Description from OMIM:
611717
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:611717Human phenotypes related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:59 32 (show top 50) (show all 66)
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech:41
Bone,
Eye,
Lung
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Search
GEO
for disease gene expression data for Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech.
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