Presentation
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]
Orpha Number: 2867 Disease definition This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. [rarediseases.info.nih.gov]
Entire Body System
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Physician
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]
*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.org]
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Dysmorphic Face
face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature [bioreference.net]
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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]
Musculoskeletal
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Macrocephaly
Affiliated tissues include kidney and bone, and related phenotypes are macrocephaly and short stature Description from OMIM: 601350 [malacards.org]
[…] people have these symptoms Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Calcification of cartilage 0100593 Delayed epiphyseal ossification 0002663 Horseshoe kidney Horseshoe kidneys 0000085 Macrocephaly [rarediseases.info.nih.gov]
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Skeletal Dysplasia
dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome with thrombocytopenia Sketetal dysplasia coarse facies mental retardation [bioreference.net]
dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]
TRP I is characterizedby sparse hair, a distinctive, bulbous nose with dorsallytented nares, and mild skeletal dysplasia with cone-shaped epiphyses, short stature, and shortening of themetacarpals and metatarsals [Giedion et al., 1973].TRP II includes [documents.tips]
dysplasia Hyperlordosis Low-set, posteriorly rotated ears Carcinoma Reticulocytopenia Unilateral cleft lip Intrauterine growth retardation Short thumb Downslanted palpebral fissures Infantile onset Ventricular septal defect Vomiting Congestive heart [mendelian.co]
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Decrease in Height
Showing of 12 80%-99% of people have these symptoms Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Calcification of cartilage 0100593 Delayed epiphyseal ossification 0002663 Horseshoe kidney Horseshoe [rarediseases.info.nih.gov]
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Narrow Thorax
Radiographs show osteochondrodysplastic lesions with a narrow thorax, short ribs, epiphyseal maturation delay and slightly deformed metaphyses. Microscopic analysis of the skeleton shows pathological features. Lippincott-Raven Publishers. [journals.lww.com]
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Short Broad Toes
broad toes Note that Short stature, Brussels type symptoms usually refers to various symptoms known to a patient, but the phrase Short stature, Brussels type signs may refer to those signs only noticable by a doctor. [checkorphan.org]
Face, Head & Neck
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Small Face
Causes - Short 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 [checkorphan.org]
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Narrow Face
face Nasal speech Growth abnormality Abnormality of the musculature Abnormality of the sternum Long foot Slender build Delayed speech and language development Frontal bossing Facial palsy Easy fatigability Diplopia Lower limb muscle weakness Limb muscle [mendelian.co]
Neurologic
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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]
Workup
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]
Treatment
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]
Treatment - Short stature syndrome- Brussels type Not supplied. Resources - Short stature syndrome- Brussels type Not supplied. [checkorphan.org]
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
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]
Etiology
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]
Epidemiology
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]
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]
Pathophysiology
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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Prevention
[…] 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]
Calcium supplementation alone has shown little benefit in treating or preventing osteoporosis. [doctormurray.com]
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The Centers for Disease Control and Prevention's growth charts are available at . View/Print Figure Figure 1. Plotted growth chart showing different patterns of growth. [aafp.org]