Two children with JS who required open heart surgery are presented and anesthetic management issues discussed. [jhu.pure.elsevier.com]

Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. [ncbi.nlm.nih.gov]

• Short Stature

  Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. [ncbi.nlm.nih.gov]

  Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. [abstracts.eurospe.org]

• Vomiting

  Common side effects of dexamfetamine include: decreased appetite mood swings agitation and aggression dizziness headaches diarrhoea nausea and vomiting Atomoxetine Atomoxetine works differently from other ADHD medications. [nhs.uk]

  Pyloric stenosis causes forceful vomiting because of a narrowed or blocked outlet from the stomachs to the intestines. [healthline.com]

  The potential complications of Jacobsen Syndrome can include: Increased susceptibility to a condition known as pyloric stenosis, in which an infant often vomits forcefully. This occurs as a result of a blockage between the stomach and intestines. [dovemed.com]

• Failure to Thrive

  She presented intrauterine growth retardation, failure to thrive and feeding difficulties from the first year of the life, and she learned to walk at the age of four years. [ncbi.nlm.nih.gov]

  It is characterized by failure to thrive, psychomotor retardation, craniofacial anomalies (e.g., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and [accessanesthesiology.mhmedical.com]

  METHODS: A 10 year-old male with Jacobsen syndrome and a history of failure to thrive presented for chronic sinusitis refractory to adenoidectomy and otitis media refractory to serial tympanostomy tubes. [jacionline.org]

  Feeding problems that can result in failure to thrive are also common. Children with Jacobsen syndrome usually have some degree of developmental delay or mental retardation, ranging from mild to severe. [encyclopedia.com]

• Nausea

  Common side effects of dexamfetamine include: decreased appetite mood swings agitation and aggression dizziness headaches diarrhoea nausea and vomiting Atomoxetine Atomoxetine works differently from other ADHD medications. [nhs.uk]

  Symptoms Patients may complain of earache, tenderness, fever, ear discharge, deep unilateral facial pain, headache, diplopia, dizziness, nausea, vomiting, and confusion [1] [13]. [eyewiki.aao.org]

• Heart Disease

  This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr. [doi.org]

• Osteoporosis

  The patient was placed on bisphosphonates along with calcium and cholecalciferol supplementation as a treatment for his severe osteoporosis. [endocrine-abstracts.org]

  Carp-Shaped Upper Lip · Small Jaw · Low Set Ears · Abnormal Ear Shape · Camptodactyly · Hammertoes · Short Thumb · Abnormal Thumb Position · Narrow Chest · Diastasis Recti · Abnormal Anal Position · Low Blood Sugar · Pancytopenia · Osteopenia · Hearing Loss · Osteoporosis [jacobsenawareness.weebly.com]

• Hearing Impairment

  They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes. [ncbi.nlm.nih.gov]

  Case presentation We herein report an unusual case of a 19-year-old male, non-smoker, with a medical history of moderate cognitive disorder, facial deformities, lower limb skeletal malformation and hearing impairment, who was referred to the outpatient [endocrine-abstracts.org]

  The Gtube delivers food directly into the stomach For abnormalities of the heart: Monitoring heart function Surgical repair of the heart defect For abnormalities of the ear and sinuses: Antibiotics for frequent bacterial infections Hearing aids for hearing [dovemed.com]

• Hypertelorism

  Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose, carp mouth, receding chin, [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  Symptoms of dis disease are wide set eyes, small lower jaw, small lower jaw, broad nasal bridge etc. this disease occurs 1 in 100000 new-borns. [omicsonline.org]

  Other clinical features include craniofacial anomalies, a short nose with a broad nasal bridge, epicanthus, cleft palate, and low-set, malformed ears. Joint subluxations ... [accessanesthesiology.mhmedical.com]

  nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). [ncbi.nlm.nih.gov]

• Short Nose

  It is characterized by failure to thrive, psychomotor retardation, craniofacial anomalies (e.g., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and [accessanesthesiology.mhmedical.com]

  nose, v-shaped mouth, small ears, low set posteriorly rotated ears). [ncbi.nlm.nih.gov]

  nose v-shaped mouth small ears: microtia low set posteriorly rotated ears: low set ears abnormal platelet function: thrombocytopenia or pancytopenia are usually present at birth It results from a deletion of a terminal region of chromosome 11 that includes [radiopaedia.org]

• Short Neck

  Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence of cardiac anomalies, and platelet dysfunction. [jhu.pure.elsevier.com]

  It is characterized by failure to thrive, psychomotor retardation, craniofacial anomalies (e.g., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and [accessanesthesiology.mhmedical.com]

• Carp-Like Mouth

  mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth [ more ] 0010806 [rarediseases.info.nih.gov]

• Confusion

  Symptoms Patients may complain of earache, tenderness, fever, ear discharge, deep unilateral facial pain, headache, diplopia, dizziness, nausea, vomiting, and confusion [1] [13]. [eyewiki.aao.org]

  If this is the case, it is surprising that none of these sites have been recognised cytogenetically, although the possibility that their expression has been confused for FRA11B may explain this discrepancy. [academic.oup.com]

  […] principal reason is that the JBS risk charts have been widely adopted and physicians in both hospital and primary care are familiar with a CHD risk threshold of ⩾ 15%, equivalent to a CVD risk threshold of ⩾ 20%, and to change this threshold could cause confusion [heart.bmj.com]

(See Workup .) Treatment for Sjögren syndrome is largely based on symptoms (eg, lotion for dry skin, artificial tears for dry eyes). [emedicine.medscape.com]

• Decreased Platelet Count

  Other common medical complications include recurrent infections, decreased platelet count, failure to thrive, and slow growth. The syndrome derives its name from a Danish physician, Dr. Petra Jacobsen, who first described an affected child in 1973. [encyclopedia.com]

[…] games: Encourage the child to speak Use glasses: To improve visual problems Alternative Medicine for Treatment of Jacobsen Syndrome The following alternate medicine and therapies are known to help in the treatment or management of Jacobsen Syndrome: [tabletwise.net]

Conclusions The Ponseti method should be used as a first-line treatment for syndromic and non-idiopathic clubfoot to obtain a fully functional foot. The treatment of syndromic clubfoot requires multiple plaster casts. [journals.eco-vector.com]

Your specialist will discuss how long you should take your treatment but, in many cases, treatment is continued for as long as it is helping. Methylphenidate Methylphenidate is the most commonly used medication for ADHD. [nhs.uk]

Treatment of metabolic syndrome. [science.gov]

Treatment There is no cure for Jacobsen syndrome; treatment generally focuses on the specific signs and symptoms present in each individual. Treatment may require the coordinated efforts of a team of various specialists. [drkarunhematology.com]

Visual prognosis is generally good. Retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted. [ncbi.nlm.nih.gov]

Prognosis - Jacobsen syndrome Approximately 25% of affected children die before two years of age mainly from cardiac defects, a tendency to bleed, or infection. Except for respiratory infections, the remainder of children are generally healthy. [checkorphan.org]

Prognosis About 20% of children die during the first two years of life, most commonly due to complications from congenital heart disease, and less commonly from bleeding. [orpha.net]

Signs and symptoms Symptoms of Jacobsen syndrome are variable and the prognosis for an affected child depends on the presence of life-threatening birth defects or medical problems. [encyclopedia.com]

The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. [ncbi.nlm.nih.gov]

Etiology The deletion size ranges from ~7 to 20Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion usually extending to the telomere. [orpha.net]

Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation. 1. Grossfeld, P.D., Mattina, T., Lai, Z. The 11q terminal deletion disorder: a prospective study of 110 cases. [journals.sagepub.com]

Etiology[edit | edit source] Jacobsen Syndrome is caused by the loss of genetic material in chromosome 11 as an entirely random error in cell division in most cases. [physio-pedia.com]

Author information 1 Department of Epidemiology & Health Promotion, New York University Colleges of Dentistry and Nursing, New York City, New York. [ncbi.nlm.nih.gov]

Summary Epidemiology To date, over 200 cases have been reported in the literature. The prevalence is estimated at 1/100,000 births, with a female/male ratio of 2:1. [orpha.net]

Epidemiological data from 20 European studies. The DECODE study group. European Diabetes Epidemiology Group. Diabetes epidemiology: collaborative analysis of diagnostic criteria in Europe. [heart.bmj.com]

Our aim is to identify and describe the current epidemiology, diagnostic methods, and treatment of Mirizzi syndrome. [science.gov]

Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS. [ncbi.nlm.nih.gov]

1Medical School, National and Kapodistrian University of Athens, Pathophysiology, Athens, Greece; 2Laiko General Hospital, Orthopaedics, Athens, Greece Introduction Jacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long [endocrine-abstracts.org]

Pathophysiology Bacteria travels from the middle ear to the mastoid air cells, which contain highly vascular marrow and are susceptible to infection [5]. [eyewiki.aao.org]

A literature search was performed using different databases, including Medline, Cochrane, Embase, Medscape, PubMed, using keywords: Mirizzi syndrome, epidemiology, markers, pathophysiology, clinical presentation, diagnosis, and treatment. [science.gov]

Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan. [ncbi.nlm.nih.gov]

Can Jacobsen Syndrome be Prevented No specific guidelines exist for the prevention of Jacobsen syndrome. However, periodic medical screening tests may be performed if there are past occurrences in family members. [primehealthchannel.com]