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2,778 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Mostly Sporadic, Skeletal Dysplasia

  • Sotos Syndrome

    […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com] His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome.[ncbi.nlm.nih.gov] […] syndrome with unusual brain and/or neuromuscular findings Multiple malformation syndrome, moderate short stature, facial Multiple malformation syndrome, small stature, without skeletal[icd9data.com]

  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com] A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations. Clin Genet. 1986 Jan; 29 (1):83–87. [ PubMed ] [ Google Scholar ] Adeyokunnu AA.[ncbi.nlm.nih.gov] This is unlike the pattern in other growth disorders such as Turner syndrome and skeletal dysplasia where parental height has an influence on final height outcome.[jmg.bmj.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hydrocephalus

    mostly in females.[web.archive.org] Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[neuropathology-web.org] Click here to read the whole story The condition is called Dandy Walker complex and is a genetically sporadic disorder that occurs in one out of every 25,000 live births,[web.archive.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([ncbi.nlm.nih.gov] ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] Dysplasias and Disorders Panel.[blueprintgenetics.com]

    Missing: Mostly Sporadic
  • Cleidocranial Dysplasia

    Diagnosis is mostly made on the basis of clinical and radiographic features.[jocr.co.in] Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[web.archive.org] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hallermann-Streiff Syndrome

    Mostly the cases are sporadic in nature and such inheritance pattern is found.[omicsonline.org] Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness[nfed.org] Dysplasia Osteolysis Syndrome Oslam syndrome Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma syndrome Otofacioosseous-Gonadal Syndrome Otoonychoperoneal Syndrome[rgd.mcw.edu]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Poland Syndrome

    dysplasias.[ncbi.nlm.nih.gov] Radiology of syndromes, metabolic disorders, and skeletal dysplasias,. 4th ed. Mosby.St. Louis;1996. p. 388-389. (26) Wright A, Milner R, Bainbridge L, Wilsdon J.[rcientificas.uninorte.edu.co] X-ray examination excluded the presence of skeletal anomalies, other than the vertebral anomalies of the second twin, and/or skeletal dysplasia reminiscent of other disorders[bmcmedgenet.biomedcentral.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Jansen's Metaphyseal Chondrodysplasia

    Search Search for a rare disease Metaphyseal chondrodysplasia, Jansen type Disease definition Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal[orpha.net] In contrast, the three affected members of this new family showed only mild skeletal dysplasia, comparatively normal stature, and blood calcium concentrations either within[ncbi.nlm.nih.gov] AU - Langman, Craig AU - Jüppner, Harald PY - 2016/11/1 Y1 - 2016/11/1 N2 - Context: Jansen's metaphyseal chondrodysplasia (JMC) is a rare skeletal dysplasia characterized[scholars.northwestern.edu]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Acrodysostosis Type 1

    (OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly[iofbonehealth.org] Acrodysostosis type 2 is an autosomal dominant form of skeletal dysplasia characterised by short stature, brachydactyly, facial dysostosis and spinal stenosis.[exeterlaboratory.com] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Noonan Syndrome

    NS mostly occurs on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission [ 3, 4, 19, 20 ].[ojrd.biomedcentral.com] Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[doi.org] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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