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

  Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and recurrent respiratory infections Orphanet: 58 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal [malacards.org]

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

  Atlas of X-Linked Intellectual Disability Syndromes. OUP USA. p. 255. ISBN 978-0-19-981179-3. [en.wikipedia.org]

  Eruption 1806006 attributes - group1 Pathological process Pathological developmental process 308490002 Occurrence Congenital 255399007 Finding site Choroidal structure 68703001 Associated morphology Degenerative abnormality 107669003 parents Intellectual disability [findacode.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]

• Weakness

  […] electroretinogram Acrokeratosis Anhidrotic ectodermal dysplasia Choroideremia Heat intolerance High myopia Horizontal nystagmus Intellectual disability Recurrent respiratory infections Recurrent skin infections Scapular winging Unfavorable response of muscle weakness [en.wikipedia.org]

  In group 3 (N=28) bulbar palsy (89%), hearing loss (86%), and facial weakness (82%) were prevalent, with muscle weakness in 50% of patients (Table 2 ). [ojrd.biomedcentral.com]

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

• Fever

  Symptoms include red or purple skin in the affected area, severe pain, fever, and vomiting. The most commonly … [checkrare.com]

  […] 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 and fevers [rarediseases.info.nih.gov]

• Recurrent Respiratory Infection

  Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and recurrent respiratory infections Orphanet: 58 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal [malacards.org]

  respiratory infections Recurrent skin infections Scapular winging Unfavorable response of muscle weakness to acetylcholine esterase inhibitors skeletal abnormality Anhidrosis Contiguous gene syndrome X-linked inheritance History[edit] It was first described [en.wikipedia.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

  intolerance High myopia Horizontal nystagmus Intellectual disability Recurrent respiratory infections Recurrent skin infections Scapular winging Unfavorable response of muscle weakness to acetylcholine esterase inhibitors skeletal abnormality Anhidrosis [en.wikipedia.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]

• 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

  DEFICIENCY Pigmentary retinopathy AR HADHA #609016 LEBER CONGENITAL AMAUROSIS Pigmentary retinopathy, photophobia, cataract, nystagmus, eye poking, diminished electroretinogram AD, AR Numerous Multiple LEBER HEREDITARY OPTIC NEUROPATHY Progressive blurred [eyewiki.aao.org]

• Muscle Weakness

  weakness to acetylcholine esterase inhibitors skeletal abnormality Anhidrosis Contiguous gene syndrome X-linked inheritance History[edit] It was first described by J. [en.wikipedia.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]

• Myopathy

  Myopathy presenting as a sole manifestation of hypothyroidism. J Assoc Physicians India 58: 569, 2010. CAS PubMed Google Scholar McKeran RO, Slavi G, Ward P, Paul E, Mair W. Hypothyroid myopathy. A clinical and pathological study. [link.springer.com]

  […] 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

  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]

  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. [rareguru.com]

  Van Den Bosch syndrome Other names Mental deficiency, choroideremia, acrokeratosis verruciformis, anhidrosis, skeletal deformity van Den Bosch syndrome is a rare X-linked syndrome like intellectual disability.[1][2][3][4] It may be caused by a small X-chromosome [en.wikipedia.org]

• Sweating

  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]

  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]

• Sparse Eyebrows

  ACHROMATOPSIA Photophobia, day blindness, nystagmus, colorblindness, myopia AR CNGA3, CNGB3 #216900, #262300 AICARDI SYNDROME Chorioretinal lacunae, retinal detachment, cataract, nystagmus, optic nerve atrophy, optic nerve coloboma, microphthalmia, sparse [eyewiki.aao.org]

• Sparse Eyelashes

  ACHROMATOPSIA Photophobia, day blindness, nystagmus, colorblindness, myopia AR CNGA3, CNGB3 #216900, #262300 AICARDI SYNDROME Chorioretinal lacunae, retinal detachment, cataract, nystagmus, optic nerve atrophy, optic nerve coloboma, microphthalmia, sparse [eyewiki.aao.org]

• Nystagmus

  GARD: 19 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. [malacards.org]

  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]

  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]

  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]

• 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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

(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]

PMID: 19184665 Prognosis Koenraadt WMC, Siebelink HJ, Bartelings MM, Schalij MJ, van der Vlugt MJ, van den Bosch AE, Budde RPJ, Roos-Hesselink JW, Duijnhouwer AL, van den Hoven AT, DeRuiter MC, Jongbloed MRM Heart 2019 May;105(9):701-707. [ncbi.nlm.nih.gov]

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]

(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]

Etiology Deroo L, Achten H, De Boeck K, Genbrugge E, Bauters W, Roels D, Dochy F, Creytens D, De Craemer AS, Van den Bosch F, Elewaut D, Peene I Semin Arthritis Rheum 2022 Oct;56:152075. Epub 2022 Jul 22 doi: 10.1016/j.semarthrit.2022.152075. [ncbi.nlm.nih.gov]

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]

[…] verruciformis, anhidrosis, skeletal deformity van Den Bosch syndrome is a rare X-linked syndrome like intellectual disability.[1][2][3][4] It may be caused by a small X-chromosome deletion.[1] The condition can be detected around infancy.[5]: 1067  Epidemiology [en.wikipedia.org]

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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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