On the other hand, the acrorenoocular Syndrome presents in addition to the dysmorphic features presented above, renal malformations (malrotation, ectopia, horseshoe kidney). [peertechzpublications.com]

Mild thrombocytopenia and leukocytosis are present before the age of 50 years. [onlinelibrary.wiley.com]

Other skeletal features of the radial ray syndrome including absence of the radial and ulnar bones are variably present. [disorders.eyes.arizona.edu]

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. [dovemed.com]

Acronym OORS Synonyms IVIC syndrome Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Strabismus

  IVIC syndrome An AD condition characterized by multiple congenital defects, eg, a defect in the radial 'ray'–an embryologic structure from which the radial bone and related musculoskeletal structures arise, strabismus, deafness, thrombocytopenia McGraw-Hill [medical-dictionary.thefreedictionary.com]

  Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus. Miller MT. Miller MT. Trans Am Ophthalmol Soc. 1991;89:623-74. Trans Am Ophthalmol Soc. 1991. PMID: 1808819 Free PMC article. Review. [pubmed.ncbi.nlm.nih.gov]

  Other findings include hearing loss (very frequent), extraocular muscle involvement in the form of strabismus (frequent), mild thrombocytopenia and leukocytosis (less frequent), and imperforated anus (10% of patients). [accessanesthesiology.mhmedical.com]

  Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. [onlinelibrary.wiley.com]

• Blepharoptosis

  Treft Sanborn Carey syndrome 0 *Ataxia *Blepharoptosis *Hearing Loss, Sensorineural *Muscular Diseases *Ophthalmoplegia *Optic Atrophy. Hamano Tsukamoto syndrome 0 *Demyelinating Diseases *Ophthalmoplegia *Spinal Muscular Atrophies of Childhood. [reference.md]

• Carpal Bone Fusion

  Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported. [malacards.org]

  0002974 Scoliosis Abnormal curving of the spine 0002650 Short thumb Short thumbs Small thumbs [ more ] 0009778 Synostosis of carpal bones Fusion of wrist bones 0005048 Triphalangeal thumb Finger-like thumb 0001199 5%-29% of people have these symptoms [rarediseases.info.nih.gov]

• Joint Stiffness

  Showing of 31 | 80%-99% of people have these symptoms Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Severe [rarediseases.info.nih.gov]

  stiffness Anal atresia Intestinal malrotation And another 24 symptoms. [mendelian.co]

  Affiliated tissues include eye, ovary and testis, and related phenotypes are hearing impairment and joint stiffness Disease Ontology : 12 A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia [malacards.org]

• Hearing Impairment

  Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia ; Oculootoradial syndrome; Instituto Venezolano [familydiagnosis.com]

  Entry H02283 Disease Name IVIC syndrome Description The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. [genome.jp]

  At a glance A hereditary polymalformative syndrome characterized by hearing impairment, radial ray defects and hand anomalies, internal ophthalmoplegia, thrombocytopenia, and leukocytosis. [accessanesthesiology.mhmedical.com]

• Hearing Problem

  For example, computer-assisted tomography (CT) scanning may be an essential aid in the detection of middle ear abnormalities that may contribute to hearing loss. [rarediseases.org]

  In summary, this data is interpreted as follows: First determine by history and crude acuity testing which ear has the hearing problem. Perform the Webber test. [panji1102.blogspot.com]

• Motor Disturbances

  Extraocular motor disturbances and hearing loss of variable severity have also been reported. [malacards.org]

  Purohit MD, MPH IVIC Syndrome (Instituto Venezolano de Investigaciones Cientificas Syndrome) is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and [dovemed.com]

• Incomplete Right Bundle Branch Block

  Obtain an electrocardiogram (ECG): rare reported cases of incomplete right bundle branch block with occasionally increased QT interval were not associated with any significant cardiovascular dysfunction. [accessanesthesiology.mhmedical.com]

  There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. [onlinelibrary.wiley.com]

• Right Bundle Branch Block

  Obtain an electrocardiogram (ECG): rare reported cases of incomplete right bundle branch block with occasionally increased QT interval were not associated with any significant cardiovascular dysfunction. [accessanesthesiology.mhmedical.com]

  There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. [onlinelibrary.wiley.com]

Treatment Treatment Options: Treatment is symptomatic in most cases although reconstructive surgery may be helpful for severe hand deformities. Low vision aids may be beneficial. [disorders.eyes.arizona.edu]

Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list. [checkorphan.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

[…] disturbances, and bilateral congenital hearing loss Usual onset Birth Duration Life-long Causes Genetic mutation Risk factors Having a parent with the condition Diagnostic method Physical evaluation, radiographies, and genetic testing Prevention none Prognosis [wikiwand.com]

Prognosis - Tunglang Savage Bellman syndrome Not supplied. Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list. [checkorphan.org]

Etiology The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor involved in the maintenance and self-renewal of embryonic and hematopoietic stem cells. [retkebolesti.com]

Extensive updates offer you the latest knowledge on etiology, imaging, differential diagnosis, and non-operative and surgical techniques for a wide range of pediatric orthopaedic conditions. "... delivers the most comprehensive text on this subject." [books.google.de]

Hearing loss is described as sensorineural in etiology but malformations of the pinnae and external meatus are sometimes present. [disorders.eyes.arizona.edu]

N Kuzmicić Medical science monitor 13 (7), CS88-CS92, 2007 462007Paradoxical psoriatic arthritis in a patient with psoriasis treated with ustekinumab Č Antoanela, I Ivo, MK Daniela, PI Neira Rheumatology 54 (11), 2114-2116, 2015 252015Clinical and epidemiological [scholar.google.com.ph]

Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. [retkebolesti.com]

Epidemiology Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. [rareguru.com]

Epidemiology Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins ) have been described. [malacards.org]

Epidemiology Triphalangeal thumbs have an incidence of 1 in 25,000 7. Pathology A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8,9. [radiopaedia.org]

Pathophysiology The gene responsible for this syndrome has variable expressivity, with the most consistent manifestation being a developmental defect of the upper limbs. A mesenchymally based defect could be implicated in the pathogenesis. [accessanesthesiology.mhmedical.com]

[…] thought to be causally related to Tourette's and may be a different expression of the same factors that are important for the expression of tics. [45] The genetic relationship of ADHD to Tourette syndrome, however, has not been fully established. [35] Pathophysiology [en.wikipedia.org]

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

[…] defects, motor disturbances, and bilateral congenital hearing loss Usual onset Birth Duration Life-long Causes Genetic mutation Risk factors Having a parent with the condition Diagnostic method Physical evaluation, radiographies, and genetic testing Prevention [wikiwand.com]

[…] granulomatosis * Multiple lentigines syndrome * I-cell disease * Galactosamine-6-sulfatase deficiency * Head injury * Diffuse sclerosis of Schilder * Strachan\'s syndrome * Sanfilippo disease * Goldscheider\'s disease * Arias oculootoradial syndrome Prevention [checkorphan.org]

The inferior rectus muscle has become entrapped within the resulting fracture, preventing the left eye from being able to look downward. [panji1102.blogspot.com]