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Geleophysic Dysplasia

Geleophysic Dwarfism


Presentation

  • In the present study, we report and compare the highly varied clinical and radiological features of three Japanese AD/GD children.[ncbi.nlm.nih.gov]
  • Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols.[books.google.de]
Turkish
  • A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency.[ncbi.nlm.nih.gov]
Congestive Heart Failure
  • heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Coxa valga 0002673 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 High pitched voice 0001620 Hypoplasia of the capital femoral epiphysis Small innermost[rarediseases.info.nih.gov]
High Pitched Voice
  • pitched voice 0001620 Hypoplasia of the capital femoral epiphysis Small innermost thighbone end part Underdevelopment of the innermost thighbone end part [ more ] 0003090 Irregular capital femoral epiphysis Irregular end part of innermost thighbone 0005041[rarediseases.info.nih.gov]
Hoarseness
  • Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress.[ncbi.nlm.nih.gov]
Respiratory Distress
  • Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress.[ncbi.nlm.nih.gov]
Failure to Thrive
  • Geleophysic Dysplasia is characterised by extremely short stature, small hands and feet, failure to thrive and accompanying physical disabilities including progressive heart disease.[mpssociety.org.uk]
Heart Failure
  • The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.[ncbi.nlm.nih.gov]
  • failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Coxa valga 0002673 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 High pitched voice 0001620 Hypoplasia of the capital femoral epiphysis Small innermost thighbone[rarediseases.info.nih.gov]
  • failure if a child had severe cardiac involvement...and of course respitory complications of pneumonia but only if tracheal narrowing was severe that it would cause an obstruction of airway. from what I understand their growth will not be enhanced with[hum-molgen.org]
Hepatosplenomegaly
  • We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions.[ncbi.nlm.nih.gov]
  • The thorax was flared and abdomen was prominent without any apparent hepatosplenomegaly.[bone-abstracts.org]
Shortened Long Tubular Bones
  • Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net]
  • Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[diseaseinfosearch.org]
  • long tubular bones Small capital femoral epiphyses Establishing the Diagnosis The clinical diagnosis of geleophysic dysplasia is based on clinical and radiographic findings (see Suggestive Findings ).[ncbi.nlm.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Small nail Small nails 0001792 Smooth philtrum 0000319 Thickened helices 0000391 Thickened skin Thick skin 0001072 Tracheal stenosis Narrowing of windpipe 0002777 Tricuspid stenosis 0010446 Upslanted palpebral[rarediseases.info.nih.gov]
Coxa Valga
  • valga 0002673 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 High pitched voice 0001620 Hypoplasia of the capital femoral epiphysis Small innermost thighbone end part Underdevelopment of the innermost thighbone end part [ more[rarediseases.info.nih.gov]
Osteopenia
  • Irregular end part of innermost thighbone 0005041 Joint contracture of the hand 0009473 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 J-shaped sella turcica 0002680 Lack of skin elasticity 0100679 Long philtrum 0000343 Mitral stenosis 0001718 Osteopenia[rarediseases.info.nih.gov]
Hand Stiffness
  • Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies[ncbi.nlm.nih.gov]
Shortened Nose
  • At the age of 11 months, she was referred to our hospital because of very short stature for her age (-4.4 standard deviations of the age-matched value) and a "happy" face with full cheeks, a shortened nose, hypertelorism, and a long and flat philtrum,[ncbi.nlm.nih.gov]
  • Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip.[rarediseases.info.nih.gov]
  • Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip.[diseaseinfosearch.org]
Tremor
  • Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficienc...[bioportfolio.com]

Workup

Liver Biopsy
  • Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.[ncbi.nlm.nih.gov]

Treatment

  • There is no treatment available because the gene involved has not been identified. As I was told a few days ago...from Dr.[hum-molgen.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It has been used as an abortifacient and in the treatment of trophoblastic tumors. GLQ223 (Compound Q), a highly purified form of trichosanthin, has been proposed as antiviral treatment for AIDS.[bioportfolio.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

  • The correct diagnosis was not made until the proband was nearly 1 year old, and the true prognosis then became clearer.[ncbi.nlm.nih.gov]
  • Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • The prognosis of acromicric dysplasia is better than that of geleophysic dysplasia. 2 Carpal tunnel syndrome accompanying acromicric dysplasia has been described by Faivre et al, 2 who reported the largest number of patients (22) with acromicric dysplasia[healio.com]

Etiology

  • Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.de]
  • Etiology Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling.[orpha.net]
  • Acromicric dysplasia should be considered in the etiology of childhood carpal tunnel syndrome. The surgical outcome of carpal tunnel syndrome is good with early diagnosis and treatment.[healio.com]

Epidemiology

  • Summary Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip.[orpha.net]
  • Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • In patients with skeletal dysplasia, the pathophysiologic mechanism underlying carpal tunnel syndrome may be narrowing and shallowing of the carpal tunnel in addition to thickening of the transverse carpal ligament. 4 Conclusion In the presence of skeletal[healio.com]
  • Three mutually non-exclusive models of the pathophysiology of MFS have been proposed: a dominant negative model, disturbance of tissue homeostasis, and increased susceptibility of fibrillin to proteolysis [ 7, 23 ].[bmcmusculoskeletdisord.biomedcentral.com]

Prevention

  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • Regular physiotherapy to prevent joint limitation Heart. Valve replacement when severe Tracheal stenosis.[ncbi.nlm.nih.gov]
  • Education 2006 PhD Genetics, Ecole Pratique des Hautes Etudes-Paris 2002 Biologist Engineer, Ecole Pratique des Hautes Etudes-Paris 1992 Technology degree graduate in biology and biochemistry (Paris XII University) Present Position CNRS Biologist Engineer – Prevention[umrs1124.biomedicale.parisdescartes.fr]
  • Early diagnosis may prevent the progression of cardiac, orthopedic or hepatic complications and may prevent the use of ineffective growth-promoting treatments in this specific patient category. Acknowledgments This work was supported by grant No.[karger.com]
  • Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis.[rarediseases.org]

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