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

  […] 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. [malacards.org]

  Causes - Spondyloperipheral dysplasia short ulna * Impaired joint mobility * Short feet * Short fingers * Short stature Prevention - Spondyloperipheral dysplasia short ulna Not supplied. [checkorphan.org]

  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]

  […] 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. [orpha.net]

  In 2015, two students set up an organisation for people of short stature as part of their graduation project. “These young women prompted the creation of an organisation for persons of short stature in French-speaking Switzerland, in May 2016.” [invivomagazine.com]

• 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]

• Anemia

  1 Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 3 Diamond-Blackfan anemia 5 Diamond-Blackfan anemia 7 Diamond-Blackfan anemia 8 Diamond-Blackfan anemia 9 Diffuse mesangial sclerosis Dilated cardiomyopathy 1A Dilated cardiomyopathy 1A Dilated cardiomyopathy [pentacorelab.hu]

  1; 105650; RPS19 Diamond-Blackfan anemia 10; 613309; RPS26 Diamond-Blackfan anemia 4; 612527; RPS17 Diamond-Blackfan anemia 5; 612528; RPL35A Diamond-Blackfan anemia 6; 612561; RPL5 Diamond-Blackfan anemia 7; 612562; RPL11 Diamond-Blackfan anemia 8; [howlingpixel.com]

  DOOR syndrome Duane Retraction syndrome Dysmorphism, HMG20B related Ectodactyly, ectodermal dysplasia, and cleft lip / palate syndrome Ellis-van Creveld syndrome Epiphyseal dysplasia, multiple, with myopia and deafness Faciogenital dysplasia Fanconi anemia [qlinics.com]

  6 RPL11 Diamond-Blackfan anemia 7 RPL15 Diamond-Blackfan anemia 12 RPL26 Diamond-Blackfan anemia 11 RPL35A Diamond-Blackfan anemia 5 RPS6KA3 (=RSK2) +del+dup Coffin-Lowry syndrome (CLS) Mental retardation, X-linked 19 (MRX19) RPS7 Diamond-Blackfan anemia [uniklinik-freiburg.de]

  And/Or Hemolytic Anemia GLUT1DS2 DYT18 612126 Genetic Test Registry Goldberg-Shprintzen Syndrome Goldberg-Shprintzen Megacolon Syndrome GOSHS 609460 Genetic Test Registry Hallermann-Streiff Syndrome Francois Dyscephalic Syndrome HSS 234100 Genetic Test [ukgtn.nhs.uk]

• Amyloidosis

  3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200; FGA Amyloidosis, hereditary, transthyretin-related; 105210; TTR Amyloidosis, primary localized cutaneous; 105250; OSMR Amyloidosis, renal; 105200 [howlingpixel.com]

  […] infection, and autoimmunity Alpha-1-antitrypsin deficiency Alport syndrome, X-linked recessive Alzheimer disease, type 1 Alzheimer disease, type 3 Alzheimer disease, type 4 Alzheimer's disease AML - Acute myeloid leukemia Amyloidogenic transthyretin amyloidosis [pentacorelab.hu]

  MEST-Gen) Urticaria pigmentosa KIT+del Urticaria-deafness-amyloidosis (UDA) syndrome NLRP3 (=NALP3) VACTERL association HOXD13+del Vacuolar cardiomyopathy and myopathy, X-linked LAMP2+del Van Buchem disease (VBCH) SOST Van der Woude syndrome 1 (VWS1) [uniklinik-freiburg.de]

• Barrel Chest

  0000768 Percent of people who have these symptoms is not available through HPO Absent styloid process of ulna 0005068 Acetabular spurs 0010454 Autosomal dominant inheritance 0000006 Barrel-shaped chest Barrel chest 0001552 Brachydactyly Short fingers [rarediseases.info.nih.gov]

• Extension of Elbows Limited

  elbow extension Decreased elbow extension 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 [rarediseases.info.nih.gov]

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]

• Hypoalbuminemia

  IFT80 Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1 Asthma and nasal polyps; 208550; TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [howlingpixel.com]

• Polyps

  […] childhood; 208230; WISP3 Arthyrgryposis, distal, type 2B; 601680; TNNT3 Arts syndrome; 301835; PRPS1 Aspartylglucosaminuria; 208400; AGA Asphyxiating thoracic dystrophy 2; 611263; IFT80 Asphyxiating thoracic dystrophy 3; 613091; DYNC2H1 Asthma and nasal polyps [howlingpixel.com]

  Polyposis, familial, of enire gastrointestinal tract BMPR1A+del, SMAD4 Polyposis, generalized juvenile, with pulmonary arteriovenous malformation SMAD4 Polyposis, hamartomatous intestinal STK11+del Polyposis, juvenile intestinal (PJI) BMPR1A+del, SMAD4 Polyps-and-spots [uniklinik-freiburg.de]

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

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]

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]

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]

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]

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]