SPD
MCID: SPN154
MIFTS: 32
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Spondyloperipheral Dysplasia (SPD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondyloperipheral Dysplasia:
Characteristics:Orphanet epidemiological data:58
spondyloperipheral dysplasia-short ulna syndrome
Inheritance: Autosomal dominant; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1856 Definition Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype , typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature . Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss , and intellectual disability . Visit the Orphanet disease page for more resources.
MalaCards based summary : Spondyloperipheral Dysplasia, also known as spondyloperipheral dysplasia-short ulna syndrome, is related to synpolydactyly and synpolydactyly 1. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are platyspondyly and type e brachydactyly Genetics Home Reference : 25 Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. UniProtKB/Swiss-Prot : 73 Spondyloperipheral dysplasia: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. Wikipedia : 74 Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is... more...
More information from OMIM:
271700
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Human phenotypes related to Spondyloperipheral Dysplasia:58 31 (show top 50) (show all 57)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:271700 |
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MalaCards organs/tissues related to Spondyloperipheral Dysplasia:40
Bone
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Articles related to Spondyloperipheral Dysplasia:(show all 19)
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ClinVar genetic disease variations for Spondyloperipheral Dysplasia:6 (show all 12)
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Search
GEO
for disease gene expression data for Spondyloperipheral Dysplasia.
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