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Zori-Stalker-Williams Syndrome

Zori Stalker Williams Syndrome


Presentation

  • ORPHA:2835 Synonym(s): Zori-Stalker-Williams syndrome Prevalence: Inheritance: Unknown Age of onset: Neonatal ICD-10: - OMIM: 600399 UMLS: C2931302 MeSH: - GARD: 374 MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • (Etiology) The exact cause of development of Zori Stalker Williams Syndrome is not known presently.[dovemed.com]
Splenomegaly
  • - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome Other spleen : Asplenia - Splenomegaly[wikidoc.org]
Short Stature
  • From Wikidata Jump to navigation Jump to search No description defined PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Zori-Stalker-Williams syndrome edit English Zori–Stalker–Williams syndrome No description defined PECTUS EXCAVATUM[wikidata.org]
  • stature, nail dysplasia, and motor developmental delay (that resolves during childhood).[orpha.net]
  • Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, [1] is a rare autosomal dominant [2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic[wikiwand.com]
  • […] nails, familial short stature, developmental delay and distinctive facies.[en.wikipedia.org]
  • Title Other Names: Pectus excavatum, macrocephaly and dysplastic nails; Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Categories: This table lists symptoms that people with this disease may[rarediseases.info.nih.gov]
Short Stature
  • From Wikidata Jump to navigation Jump to search No description defined PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Zori-Stalker-Williams syndrome edit English Zori–Stalker–Williams syndrome No description defined PECTUS EXCAVATUM[wikidata.org]
  • stature, nail dysplasia, and motor developmental delay (that resolves during childhood).[orpha.net]
  • Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, [1] is a rare autosomal dominant [2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic[wikiwand.com]
  • […] nails, familial short stature, developmental delay and distinctive facies.[en.wikipedia.org]
  • Title Other Names: Pectus excavatum, macrocephaly and dysplastic nails; Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Categories: This table lists symptoms that people with this disease may[rarediseases.info.nih.gov]
Developmental Delay
  • delay (that resolves during childhood).[orpha.net]
  • Title Other Names: Pectus excavatum, macrocephaly and dysplastic nails; Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Categories: This table lists symptoms that people with this disease may[rarediseases.info.nih.gov]
  • Aliases & Classifications for Zori Stalker Williams Syndrome MalaCards integrated aliases for Zori Stalker Williams Syndrome: Name: Zori Stalker Williams Syndrome 53 73 Familial Short Stature, Developmental Delay, Pectus Abnormalities, Distinctive Facies[malacards.org]
Physician
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Pain
  • Don-t think that the pain or the Zori Stalker Williams Syndrome you have endured cannot be ended or put on a healing path. Don-t give up hope. We can help you recover, but you have to take the first step by contacting us![alternativetreatmentsfor.com]
  • Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 muscular dystrophy-dystroglycanopathy type B6 Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay myelodysplastic syndrome myofascial pain[rgd.mcw.edu]
  • Sternocostoclavicular hyperostosis: painful swelling of the sternum, clavicles, and upper ribs. Report of two new cases. Ann Intern Med 1977; 87: 192–7 PubMed Google Scholar Kozlowski K, Collis J, Suter M, Sillence D.[link.springer.com]
Macrocephaly
  • Homepage Rare diseases Search Search for a rare disease Pectus excavatum-macrocephaly-dysplastic nails syndrome Disease definition Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by[orpha.net]
  • Title Other Names: Pectus excavatum, macrocephaly and dysplastic nails; Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Categories: This table lists symptoms that people with this disease may[rarediseases.info.nih.gov]
  • From Wikidata Jump to navigation Jump to search No description defined PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Zori-Stalker-Williams syndrome edit English Zori–Stalker–Williams syndrome No description defined PECTUS EXCAVATUM[wikidata.org]
  • Last updated June 9, 2018 Zori Stalker Williams Syndrome, also known as Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome, is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature,[dovemed.com]
  • Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, [1] is a rare autosomal dominant [2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic[wikiwand.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Showing of 13 Last updated: 6/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
Skeletal Dysplasia
  • The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol 1997; 27: 447–51 CrossRef PubMed Google Scholar Naumoff P, Young LW, Mazer J, Amortegui AJ. Short-rib-polydactyly syndrome type 3.[link.springer.com]
  • Dysplasia, and Abducens Palsy Mental Retardation, X-Linked Merlob Grunebaum Reisner Syndrome MERRF Syndrome MERRF/MELAS Overlap Syndrome Mesomelia-Synostoses Syndrome Metabolic Syndrome Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness[rgd.mcw.edu]
Muscle Hypotonia
  • Motor development is delayed due to muscle hypotonia and is associated with unusual clumsiness.[findzebra.com]
Muscle Hypotonia
  • Motor development is delayed due to muscle hypotonia and is associated with unusual clumsiness.[findzebra.com]
Low Nasal Root
  • nasal root [ more ] 0005280 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Malar flattening Zygomatic[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • Showing of 13 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge[rarediseases.info.nih.gov]

Workup

  • The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997; 1 : 99–108. 24 Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang Jr T.[nature.com]

Treatment

  • We offer an alternative treatment process that centers around the idea of using your own adult stem cells as the basis of the treatment.[alternativetreatmentsfor.com]
  • 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]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • 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]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Zori Stalker Williams Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms[dovemed.com]
  • Prognosis - Zori Stalker Williams syndrome Not supplied. Treatment - Zori Stalker Williams syndrome Not supplied. Resources - Zori Stalker Williams syndrome See Research Publications[checkorphan.org]

Etiology

  • (Etiology) The exact cause of development of Zori Stalker Williams Syndrome is not known presently.[dovemed.com]
  • Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet Suppl. 1990;6:89-96. Holmstrom G, et al. The iris in Williams syndrome. Arch Dis Child. 1990;65:987-989. Giddins NG, et al.[rarediseases.org]
  • Discussion and conclusions Angelman syndrome is caused by the lack of expression of the maternal copy in neurons of the UBE3A gene due to four different molecular etiologies: Deletion of the 15q11.2-q13 region on the maternal chromosome, mutations in[bmcmedgenet.biomedcentral.com]
  • ., have none of the above etiologies). Familial occurrence in this group does occur, so it is apparent that the recurrence risk is higher than it is for those with, for example, a typical large common deletion.[mertsahinoglu.com]
  • An etiologic classification. Am J Roentgenol Radium Ther Nucl Med 1969; 106: 491–505 PubMed Google Scholar Shawker TH, Dennis JM, Nilprabhassorn P. Benign intrathoracic lipoma with rib erosion in an infant.[link.springer.com]

Epidemiology

  • Urease influence also arrogate to the recruitment of neutro phils and monocytes in the mucosa and to the television of proinflammatory cytokines Molecular Epidemiology of Helicobacter pylori in Brazilian Patients with At Gastric Cancer and... 3 The using[nhha.org]
  • Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence. Am J Med Genet 1994; 49: 36–44 PubMed Google Scholar Mortier GR, Lachman RS, Bocian M, Rimoin DL.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Furthermore, elucidation of the pathophysiology of the hormonal disturbances may provide insights into the molecular mechanisms underlying the 22q11.2 deletion syndrome.[nature.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • How can Zori Stalker Williams Syndrome be Prevented? Zori Stalker Williams Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Prevention - Zori Stalker Williams syndrome Not supplied. Diagnosis - Zori Stalker Williams syndrome Not supplied. Prognosis - Zori Stalker Williams syndrome Not supplied. Treatment - Zori Stalker Williams syndrome Not supplied.[checkorphan.org]

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