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Spondyloperipheral Dysplasia

Spondyloperipheral Dysplasia - Short Ulna


Presentation

  • Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.[ghr.nlm.nih.gov]
  • We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations) and brachydactyly.[ncbi.nlm.nih.gov]
  • ORPHA:1856 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Neonatal, Infancy ICD-10: Q77.7 OMIM: 271700 UMLS: C0796173 MeSH: C535799 GARD: 4994 MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • Acronym SPD Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Short Stature
  • We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes.[ncbi.nlm.nih.gov]
  • Causes - Spondyloperipheral dysplasia short ulna * Impaired joint mobility * Short feet * Short fingers * Short stature Prevention - Spondyloperipheral dysplasia short ulna Not supplied.[checkorphan.org]
  • Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.[en.wikipedia.org]
Short Finger
  • Causes - Spondyloperipheral dysplasia short ulna * Impaired joint mobility * Short feet * Short fingers * Short stature Prevention - Spondyloperipheral dysplasia short ulna Not supplied.[checkorphan.org]
  • The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly).[en.wikipedia.org]
  • 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.[ghr.nlm.nih.gov]
Respiratory Distress
  • At birth the baby showed severe respiratory distress for four weeks which then resolved.[ncbi.nlm.nih.gov]
  • distress; 610978; NKX2-1 Choriodal dystrophy, central areolar 2,; 613105; PRPH2 Choroid plexus papilloma; 260500; TP53 Choroideremia; 303100; CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C[howlingpixel.com]
Barrel Chest
  • chest 0001552 Brachydactyly Short fingers or toes 0001156 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cone-shaped epiphyses of the phalanges of the hand Cone-shaped end part[rarediseases.info.nih.gov]
Hypoplastic Nails
  • There was bilateral soft tissue syndactyly of the 2nd and 3rd interdigital spaces of the hands, the 2nd interdigital space of the feet, with hypoplastic nails.[ncbi.nlm.nih.gov]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Malar flattening Zygomatic flattening 0000272 Midface retrusion Decreased size of midface Midface[rarediseases.info.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Type E brachydactyly 0005863 30%-79% of people have these symptoms Abnormality of pelvic girdle bone morphology Abnormal shape of pelvic girdle bone 0002644 Abnormality of vertebral epiphysis morphology Abnormal[rarediseases.info.nih.gov]

Workup

  • During the pregnancy, the woman was offered a complete workup including a cardiac, pneumological, orthopaedic and obstetric examinations every month from the 17th to the 32nd week. All parameters remained within the normal range.[ojrd.biomedcentral.com]
Shortened Long Bone
  • 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 ).[ghr.nlm.nih.gov]
  • 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).[malacards.org]
  • long bone of hand 0010049 Short stature Decreased body height Small stature [ more ] 0004322 Type E brachydactyly 0005863 30%-79% of people have these symptoms Abnormality of pelvic girdle bone morphology Abnormal shape of pelvic girdle bone 0002644[rarediseases.info.nih.gov]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment - Spondyloperipheral dysplasia short ulna Not supplied. Resources - Spondyloperipheral dysplasia short ulna Not supplied.[checkorphan.org]

Prognosis

  • Prognosis - Spondyloperipheral dysplasia short ulna Not supplied. Treatment - Spondyloperipheral dysplasia short ulna Not supplied. Resources - Spondyloperipheral dysplasia short ulna Not supplied.[checkorphan.org]

Etiology

  • This observation further supports the conclusion that SPD and PLSD-T are not two etiologically distinct entities but belong to the same continuum phenotypic spectrum.[ojrd.biomedcentral.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • […] dystrophy Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • The exact pathophysiological mechanism is unclear; however it is most probably associated with the expression of type II and IX collagen in the inner ear 2, 4.[centogene.com]

Prevention

  • However, loss of crucial cysteine residues or other sequences essential for trimerization prevents these chains from associating and participating in procollagen helix formation, and thus leads to accumulation in the ER-consistent with EM findings.[ncbi.nlm.nih.gov]
  • […] stature * Bowed forearms * Short fingers * Pelvis anomaly * Impaired joint mobility * Flared chest * Cone-shaped growing ends of bones Causes - Spondyloperipheral dysplasia short ulna * Impaired joint mobility * Short feet * Short fingers * Short stature Prevention[checkorphan.org]
  • Physical therapy can help prevent the symptoms from returning. Orthotic devices can help prevent future symptoms, the orthotic device will dig into the edge of the accessory navicular and cause discomfort.[wikivisually.com]
  • TABLE 25-10 Activity Recommendations Berlin JA, Colditz GA: A meta-analysis of physical activity in the for the Common Dysrhythmias prevention of coronary heart disease.[woodsholemuseum.org]
  • Spondyloperipheral Dysplasia Genetic, Disorder, Dysplasia, Bone, Platyspondyly, Brachydactyly, Zoology Medicine PlaisPublishing (2011-11-16) - ISBN-13: 978-613-8-68026-0 34.00 2,721.38 Understanding canine hip dysplasia causes, mechanisms, diagnosis, treatment and prevention[morebooks.de]

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