Homepage Rare diseases Search Search for a rare disease Short stature, Brussels type Disease definition This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism [orpha.net]

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2867Disease definitionThis syndrome is characterised by short stature presenting in the neonatal [malacards.org]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

However, these have not been reported in the present study. The scope of this study was inherently limited due to it being a retrospective analysis. [ijmr.org.in]

While honest about the occasional challenges he faced growing up in the “tall” state of Texas, his book is also encouraging — presenting well-researched facts and life experiences that counter the myths and misinformation associated with being short, [well.blogs.nytimes.com]

• Cerebral Palsy

  White-Koning M., et al., Determinants of child-parent agreement in quality-of-life reports: A European study of children with cerebral palsy. Pediatrics, 2007. 120: p. e804–e814. pmid:17908738 View Article PubMed/NCBI Google Scholar 71. [journals.plos.org]

• Small Face

  * Small face * Bulging forehead * Broad forehead * Prominent veins on forehead * Deep-set eyes * Narrow eye slits * Abnormal upper lip groove * Wide mouth * Thin vermilion * Small recessed jaw * Short iliac bones * Short broad metacarpals * Short broad [checkorphan.org]

• Dystonia

  […] disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe motor and intellectual disabilities-sensorineural deafness-dystonia [se-atlas.de]

Although most children with short or tall stature do not have a pathologic condition, extremes of height, especially beyond three standard deviations, require further workup. [aafp.org]

Fears about GH treatment disappeared almost completely. Conclusion: The perspective of GH treatment induced major adult height expectations. [orbilu.uni.lu]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Karger AG, Basel References Ranke MB, Lindberg A: Predicting growth in response to growth hormone treatment. Growth Horm IGF Res 2009;19:1–11. [karger.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]

Prognosis - Short stature syndrome- Brussels type Not supplied. Treatment - Short stature syndrome- Brussels type Not supplied. Resources - Short stature syndrome- Brussels type Not supplied. [checkorphan.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The most useful information in the evaluation of a child with short stature is the child's growth pattern Medical care depends on the etiology of the short stature. [emedicine.medscape.com]

Idiopathic short stature is defined as a height less than two standard deviations below the mean for age without a known etiology. [aafp.org]

Unknown AR Moderate to severe Similar to type III, dentinogenesis imperfecta absent, abnormal bone mineralization on histologic evaluation VII CRTAP AR Moderate Overlaps with type II and III VIII LEPRE1 AR Severe to lethal Overlaps with type II and III Etiology [now.aapmr.org]

ORPHA:2867 Synonym(s): Mievis-Verellen-Dumoulin syndrome Prevalence: Inheritance: Unknown Age of onset: Infancy, Neonatal ICD-10: Q87.1 OMIM: 601350 UMLS: C1832439 MeSH: C537121 GARD: 4838 MedDRA: - Summary Epidemiology It has been described in two members [orpha.net]

Yet, there were only modest correlations with body weight, and W/H 3 was the least useful power type index for epidemiological uses. [fao.org]

Epidemiology It has been described in two members from the same family. Last updated: 5/18/2006 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

Celiac disease: Pathophysiology, clinical manifestations, and associated autoimmune conditions. Adv Pediatr 2008; 55 : 349-65. 11. Barera G, Bonfanti R, Viscardi M, Bazzigaluppi E, Calori G, Meschi F, et al. [ijmr.org.in]

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Calcium supplementation alone has shown little benefit in treating or preventing osteoporosis. [doctormurray.com]

[…] stature syndrome- Brussels type Other Possible Causes of these Symptoms * Broad forehead * Deep-set eyes * Large head * Narrow rib cage * Short ribs * Short stature * Skeletal abnormalities * Small face * Triangular face * Unusual facial appearance Prevention [checkorphan.org]

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C 1 The history and physical examination prevents unnecessary laboratory studies; children with dysmorphic features should be referred to a geneticist and an endocrinologist. [aafp.org]