Symptoma

Van den Bosch Syndrome

In this book, the authors present current research from across the globe on Down syndrome. [bookdepository.com]

At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. [books.google.com]

Scimitar syndrome: A rare disease with unusual presentation. [lungindia.com]

Nystagmus may be present. Reduction or absence of rod responses on ERG can be used in young children to document the retinopathy. Blindness and deafness commonly occur in childhood. [disorders.eyes.arizona.edu]

Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. [uniprot.org]

  • 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]

  • Disability

    Source: Atlas of X-Linked Intellectual Disability Syndromes (2 ed.) [m.oxfordmedicine.com]

    Anhidrotic ectodermal dysplasia 0007476 Choroideremia 0001139 Heat intolerance Intolerance to heat and fevers 0002046 High myopia Severe near sightedness Severely close sighted Severely near sighted [ more ] 0011003 Horizontal nystagmus 0000666 Intellectual disability [rarediseases.info.nih.gov]

  • Fever

    Showing of 16 30%-79% of people have these symptoms Abnormal electroretinogram 0000512 Acrokeratosis 0200016 Anhidrotic ectodermal dysplasia 0007476 Choroideremia 0001139 Heat intolerance Intolerance to heat and fevers 0002046 High myopia Severe near [rarediseases.info.nih.gov]

  • Weakness

    […] respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Scapular winging Winged shoulder blade 0003691 Unfavorable response of muscle weakness [rarediseases.info.nih.gov]

  • Recurrent Respiratory Infections

    respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Recurrent skin infections Skin infections Skin infections, recurrent [ [rarediseases.info.nih.gov]

  • Ectopia Lentis

    LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment AR ADAMTSL4 #225200 ECTOPIA LENTIS, FAMILIAL Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens [eyewiki.aao.org]

  • Excessive Tearing

    tearing AR TAT #276600 USHER SYNDROME retinitis pigmentosa, cataracts AR 11 genes, majority of cases due to MYO7A, USH2A Multiple DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL [eyewiki.aao.org]

  • Periorbital Fullness

    fullness XLR - %300238 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME External ophthalmoplegia X-linked - 312840 SMITH-MAGENIS SYNDROME (CHROMOSOME 17p11.2 DELETION SYNDROME) Microcornea, strabismus, iris anomalies, myopia AD (sporadic unless secondary [eyewiki.aao.org]

  • Blurred Vision

    vision, optic atrophy, vascular tortuosity of central retinal vessels, circumpapillary telangiectatic macroangiopathy, retinal nerve fibers swelling Mitochondrial MTND1, MTND4, MTND5, MTND6 #535000 LEIGH SYNDROME Pigmentary retinopathy, nystagmus, optic [eyewiki.aao.org]

  • Muscle Weakness

    […] respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Scapular winging Winged shoulder blade 0003691 Unfavorable response of muscle [rarediseases.info.nih.gov]

  • Myopathy

    […] experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy [books.google.com]

    CNBP #160900, #602668 NAIL-PATELLA SYNDROME Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis AD LMX1B #161200 NANCE-HORAN SYNDROME Congenital cataracts, glaucoma, microphthalmia, microcornea, nystagmus XLD NHS #302350 NATIVE AMERICAN MYOPATHY [eyewiki.aao.org]

  • Anhidrosis

    Orpha Number: 3417 Disease definition Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. [rarediseases.info.nih.gov]

  • Sparse Eyebrows

    eyebrows and eyelashes, hypertelorism, epicanthal folds AD - %605627 CEREBROTENDINOUS XANTHOMATOSIS Cataracts AR CYP27A1 #213700 CHARCOT-MARIE-TOOTH DISEASE Glaucoma, slow pupillary reaction, nystagmus, optic nerve atrophy AD, AR, XLD Numerous Multiple [eyewiki.aao.org]

  • Sparse Eyelashes

    eyelashes, optic atrophy, conjunctival leukoplakia, epiphora, strabismus, cataract AD, AR, X-linked Numerous Multiple ECTOPIA LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment [eyewiki.aao.org]

  • Beak Nose

    Definition A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, [uniprot.org]

  • Low Self-Esteem

    The complications of Van Den Bosch Syndrome may include: Overheating of the body and heat stroke due to lack of sweating (anhidrosis) Progressive deterioration of vision impairment due to choroideremia Cosmetic concerns and low self-esteem due to the [dovemed.com]

  • Nystagmus

    Acrokeratosis 0200016 Anhidrotic ectodermal dysplasia 0007476 Choroideremia 0001139 Heat intolerance Intolerance to heat and fevers 0002046 High myopia Severe near sightedness Severely close sighted Severely near sighted [ more ] 0011003 Horizontal nystagmus [rarediseases.info.nih.gov]

  • Stroke

    The complications of Van Den Bosch Syndrome may include: Overheating of the body and heat stroke due to lack of sweating (anhidrosis) Progressive deterioration of vision impairment due to choroideremia Cosmetic concerns and low self-esteem due to the [dovemed.com]

  • Tremor

    18 25% Palsy of the trigeminal nerve (V) 1 5% 6 29% 6 21% 14 19% Lower motor neuron signs 4 19% 5 24% 4 14% 13 18% Diaphragm weakness/palsy 4 19% 3 14% 4 14% 11 15% Palsy of the optic nerve (II) 2 10% 3 14% 5 18% 10 14% Ataxia 2 10% 3 14% 3 11% 9 12% Tremor [ojrd.biomedcentral.com]

and in some cases, due to treatment also. [dovemed.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]

(Outcomes/Resolutions) The prognosis of Van Den Bosch 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 and complications [dovemed.com]

Prognosis [ edit ] Currently, no cure for Zellweger syndrome is known, nor is a course of treatment made standard. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. [en.wikipedia.org]

Scimitar syndrome: Incidence, treatment and prognosis. Eur J Pediatr 2008;167:155-60. 13. Sinha R, Singh P, Bhatnagar AK, Batra A. Scimitar syndrome: Imaging by magnetic resonance angiography and Doppler echocardiography. [lungindia.com]

This has important implications regarding the diagnosis, prognosis and long-term follow up in these diseases. [siicsalud.com]

Although patients with mutations in core subunits have a significantly poorer prognosis than patients with mutations in noncore subunits, the variability in prognosis is extremely high. 7 With current genetic diagnostic technology, genetic mutations in [dovepress.com]

(Etiology) It is believed that Van Den Bosch Syndrome is caused by deletions on the X chromosome The disorder is inherited in an X-linked recessive manner X-linked recessive pattern of inheritance: The gene associated with this condition is located on [dovemed.com]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons. 36, 68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [dovepress.com]

As the diagnosis in the group of patients reported before 2010 was based on symptoms only, the disease in these patients may well result from a very diverse etiology. Since 2010, a much more defined group of patients has been reported. [ojrd.biomedcentral.com]

Clinical manifestation of prenatal exposure to valproic acid using reports and epidemiologic information. Am. J. Med. Genet. 37 (1990) 277–282. [link.springer.com]

MATERIALS AND METHODS The Orphanet Rare Disease Ontology (ORDO), derived from the Orphanet database ( www.orpha.net ), integrates information about rare (“orphan”) diseases, genes, epidemiology, and orphan drugs. 14, 15 ORDO defines semantic relationships [academic.oup.com]

[…] new chapter on sleep disorders whilst the chapters on Alzheimer's disease and related dementias, Epilepsy, Movement disorders and Traumatic brain injury have been extensively revised reflecting the greatly improved understanding of their underlying pathophysiologies [books.google.es]

However, since 2010 insights into the pathophysiology, genetics and treatment of this disorder have increased tremendously. [ojrd.biomedcentral.com]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [dovepress.com]

How can Van Den Bosch Syndrome be Prevented? Van Den Bosch Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Prevention of the main childhood disease, rotavirus-induced diarrhea, rests with the recently introduced vaccines. [asmscience.org]

Finally, insulinsensitizing drugs should be used as adjuvants to general lifestyle improvements (improved diet and increased exercise) to prevent these risks. [elsevier.es]

Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. [en.wikipedia.org]

Health care workers should be aware of the potential presence of this disease to prevent false accusations of child abuse. abuse anhidrosis congenital insensitivity to pain with anhidrosis (CIPA) hereditary sensory and autonomic neuropathy (HSAN) neuroimaging [pediatrics.aappublications.org]