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Jacobsen Syndrome

Distal Deletion 11q


Presentation

  • We also present a family member with 11q24.2-qter trisomy and 22q13.33-qter monosomy, whose clinical phenotype is partially overlapping with several dysmorphic features of JBS.[ncbi.nlm.nih.gov]
Increased Susceptibility to Infections
  • We describe a 34-year-old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections.[ncbi.nlm.nih.gov]
Death in Infancy
  • […] in infancy Infantile death Lethal in infancy [ more ] 0001522 Duodenal atresia Absence or narrowing of first part of small bowel 0002247 Ectopic anus Abnormal anus position 0004397 Ectropion Eyelid turned out 0000656 Eczema 0000964 Eyelid coloboma Cleft[rarediseases.info.nih.gov]
Receding Chin
  • 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]
Petechiae
  • The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures.[ncbi.nlm.nih.gov]
Hearing Impairment
  • They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes.[ncbi.nlm.nih.gov]
  • 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]
  • Some individuals with partial monosomy 11q experience some degree of hearing impairment. Additional findings have been associated with partial monosomy 11q. These finding affect less than half of affected individuals.[rarediseases.org]
Asymmetry of the Ears
  • Our patient was delivered by cesarean section and exhibited skull deformities, facial asymmetry, low-set ears, inguinal hernia, flat feet, and crowded toes.[ncbi.nlm.nih.gov]
Short Neck
  • A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years.[ncbi.nlm.nih.gov]
  • 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]
  • ., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and congenital heart defects. The exact cause of chromosome 11 ring is not fully understood.[accessanesthesiology.mhmedical.com]
Carp-Like Mouth
  • […] atrophy 0000648 Pectus excavatum Funnel chest 0000767 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 U-Shaped upper lip vermilion Carp-like[rarediseases.info.nih.gov]
Amenorrhea
  • The evolution of puberty was characterized by hypogenitalism and primary amenorrhea. Thrombocytopenia and IgM deficiency became apparent also at puberty.[ncbi.nlm.nih.gov]
Primary Amenorrhea
  • The evolution of puberty was characterized by hypogenitalism and primary amenorrhea. Thrombocytopenia and IgM deficiency became apparent also at puberty.[ncbi.nlm.nih.gov]

Workup

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

Treatment

  • Surgical correction for strabismus was in the treatment plan.[ncbi.nlm.nih.gov]
  • Treatment of metabolic syndrome .[science.gov]
  • There is no cure for Jacobsen syndrome, so treatment will focus on improving the child’s overall health. Treatment will focus on addressing health complications that arise and helping the child reach developmental milestones.[healthline.com]
  • Treatment or Management of the Condition Currently there is no treatment or gene replacement for the missing piece of the chromosome. Routinely seeing a doctor will help minimize the other effects of the disease.[wiki.ggc.usg.edu]
  • Management and treatment Management is multi-disciplinary and requires evaluation by a pediatrician, pediatric cardiologist, neurologist and ophthalmologist.[orpha.net]

Prognosis

  • 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]
  • (Outcome/Resolutions) The prognosis of Jacobsen Syndrome depends on the extent of genetic material lost, which in turn dictates the type and severity of symptoms in the affected individuals Approximately 20% of children with Jacobsen Syndrome are reported[dovemed.com]

Etiology

  • 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.[journals.sagepub.com]
  • (Etiology) Jacobsen Syndrome is a very well-studied genetic disorder, which is caused by the deletion of a part of chromosome 11.[dovemed.com]

Epidemiology

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

Pathophysiology

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

Prevention

  • 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]

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