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]

Figure 1 Number of patients by age of presentation. Natural history Presenting age The age at presentation was known for 69 patients with a mean of 8.2 years (median 9, range 0.3-17, SD 5.2). [ojrd.biomedcentral.com]

3417 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: X-linked recessive Age of onset: No data available ICD-10: - OMIM: 314500 UMLS: C0796192 MeSH: - GARD: 5453 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Disability

  Orphanet Frequency HPO Source Accession 1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249 2 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205 3 abnormal electroretinogram 58 31 frequent (33%) [malacards.org]

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

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin [orpha.net]

  Journal of Intellectual Disability Research. 57, 23-38 de Graaf, G. & de Graaf, E. (2012) Development of self-help, language and academic skills in Down syndrome. [dseinternational.org]

  The signs and symptoms of Van Den Bosch Syndrome may include: Abnormality of the skeletal system Acrokeratosis Anhidrosis (lack of sweating) Choroideremia Intellectual disability (Source: Van Den Bosch Syndrome; Genetic and Rare Disease Information Center [dovemed.com]

• Recurrent Respiratory Infections

  Orphanet Frequency HPO Source Accession 1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249 2 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205 3 abnormal electroretinogram 58 31 frequent (33%) [malacards.org]

  respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Recurrent skin infections Skin infections, recurrent 0001581 Scapular winging [rarediseases.info.nih.gov]

• Heat Intolerance

  33%) Frequent (79-30%) HP:0200016 7 high myopia 58 31 frequent (33%) Frequent (79-30%) HP:0011003 8 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581 9 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666 10 heat [malacards.org]

  Showing of 16 | Medical Terms Other Names Learn More: HPO ID 30%-79% of people have these symptoms Abnormal electroretinogram 0000512 Acrokeratosis 0200016 Anhidrotic ectodermal dysplasia 0007476 Choroideremia 0001139 Heat intolerance Intolerance to heat [rarediseases.info.nih.gov]

• Anhidrosis

  MalaCards based summary : Van Den Bosch Syndrome, is also known as mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity. [malacards.org]

  […] specified congenital malformation syndromes, not elsewhere classified ICD-10 online (WHO version 2019) The Van den Bosch syndrome is a very rare congenital disease with the main features of mental retardation, choroideremia, Verruciformis Acrokeratosis, anhidrosis [de.zxc.wiki]

  Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. [findzebra.com]

  Orpha Number: 3417 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]

• Sweating

  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]

  Sweating dysfunction [ more ] 0000970 Contiguous gene syndrome 0001466 X-linked inheritance 0001417 Showing of 16 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals [rarediseases.info.nih.gov]

• Muscle Weakness

  weakness to acetylcholine esterase inhibitors 58 31 frequent (33%) Frequent (79-30%) HP:0030203 12 anhidrotic ectodermal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007476 13 abnormality of the skeletal system 31 HP:0000924 14 anhidrosis 31 [malacards.org]

  weakness to acetylcholine esterase inhibitors 0030203 Percent of people who have these symptoms is not available through HPO Abnormality of the skeletal system Skeletal abnormalities Skeletal anomalies [ more ] 0000924 Anhidrosis Lack of sweating Sweating [rarediseases.info.nih.gov]

• 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

  AD, AR KIF21A, PHOX2A, ARIX, TUBB3 #135700, #602078, #600638 CONGENITAL NYSTAGMUS Pendular and horizontal nystagmus, head turn, strabismus AD, AR, X-linked Numerous Multiple CONGENITAL STATIONARY NIGHT BLINDNESS Night blindness, myopia AD, AR, X-linked [eyewiki.aao.org]

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin [orpha.net]

  Frequent (79-30%) HP:0001139 6 acrokeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0200016 7 high myopia 58 31 frequent (33%) Frequent (79-30%) HP:0011003 8 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581 9 horizontal nystagmus [malacards.org]

  Clinical manifestations Clinical criteria are: Mental retardation Development setback horizontal nystagmus Choroideremia severe nearsightedness Scapula alata both sides Acrokeratosis verruciformis Tendency to skin and respiratory infections Anhidrosis [de.zxc.wiki]

  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]

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

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

The infant fully recovered after riboflavin treatment[ 10, 11 ]. [ojrd.biomedcentral.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]

CrossRef Google Scholar Martinez-Frias, M.L., 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]