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MORM Syndrome
Mental Retardation-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome
Presentation
- […] retardation-truncal obesity-retinal dystrophy-micropenis syndrome Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: - ICD-10: - OMIM: 610156 UMLS: C1857802 MeSH: C536984 GARD: 10121 MedDRA: - The documents contained in this web site are presented[orpha.net]
- MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from birth and is likely the result of both healthy parents passing on a defective gene, associated with MORM syndrome, to their offspring.[dbpedia.org]
- Based on the experience of mental retardation as it presents in that population, these individuals had mild to moderate mental retardation.[doi.org]
- They are in the patients own words and are recorded along with the duration of each one, called chief concern or presenting complaint. History of present illness, the order of events of symptoms.[wikivisually.com]
Entire Body System
Abdominal Obesity
- obesity-metabolic syndrome GNAS Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism LEP Leptin deficiency LEPR Leptin receptor deficiency MAGEL2 Schaaf-Yang syndrome (Prader-Willi-like[genda.com.ar]
Respiratoric
Delayed Speech Development
- speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language[rarediseases.info.nih.gov]
Eyes
Visual Impairment
- The assessment took into consideration the adaptive functioning, the impairment caused by visual impairment and socio-cultural issues.[doi.org]
- It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly[goo.gl]
- Apply all the latest clinical advances through updated coverage of strabismus diagnosis, management and complications; retinal dystrophies; imaging & investigation; AIDS in children; developmental biology; cerebral visual impairment; child abuse; severe[books.google.de]
Photophobia
- Photophobia and nystagmus did not occur. Individuals were able to travel around the village using surroundings and familiarity, and were able to see large shapes and colour.[doi.org]
- […] case study and stated in a dictionary of dermatologic syndromes, ABCD syndrome has many notable features, including "snow white hair in patches, distinct black locks of hair, skin white except brown macules, deafness, irises gray to blue, nystagmus, photophobia[en.wikipedia.org]
- […] hypotonia-cystinuria syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Ichthyosis and Male Hypogonadism Ichthyosis Cheek Eyebrow Syndrome Ichthyosis Follicularis Atrichia Photophobia[rgd.mcw.edu]
Visual Acuity Decreased
- acuity Decreased clarity of vision 0007663 Retinal dystrophy Breakdown of light-sensitive cells in back of eye 0000556 Truncal obesity 0001956 Showing of 9 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging[rarediseases.info.nih.gov]
Neurologic
Language Delays
- delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Intellectual disability, moderate IQ between 34 and 49[rarediseases.info.nih.gov]
- Characteristics What distinguishes Asperger’s Disorder from classic autism are its less severe symptoms and the absence of language delays.[autism-society.org]
Language Delays
- delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Intellectual disability, moderate IQ between 34 and 49[rarediseases.info.nih.gov]
- Characteristics What distinguishes Asperger’s Disorder from classic autism are its less severe symptoms and the absence of language delays.[autism-society.org]
Delayed Speech and Language Development
- Showing of 9 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Childhood-onset truncal obesity 0008915 Delayed speech and[rarediseases.info.nih.gov]
Workup
- Clinical Testing and Workup Microscopic (histologic) examination of affected arteries can reveal disruption of elastic fibers of affected arterial walls.[rarediseases.org]
Treatment
- The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
- Gynaecology - diagnosis and treatment of the reproductive system Hematology – branch of medicine that deals with the blood.[wikivisually.com]
- Treatment - MORM syndrome Not supplied. Resources - MORM syndrome Not supplied.[checkorphan.org]
- State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery.[books.google.de]
Prognosis
- Prognosis - MORM syndrome Not supplied. Treatment - MORM syndrome Not supplied. Resources - MORM syndrome Not supplied.[checkorphan.org]
- Prognosis There is no decrease in life expectancy but quality of life is reduced due to visual impairment. The documents contained in this web site are presented for information purposes only.[orpha.net]
- It is not intended to provide instruction and you should not rely on this information to determine diagnosis, prognosis or a course of treatment. It should not be used in place of a professional consultation with a doctor.[dystonia.org.uk]
- Special educators, speech and occupational therapists, and physiotherapists can help a child develop skills in and out of school. [1] Prognosis [ edit ] Affected individuals have a somewhat shortened lifespan.[en.wikipedia.org]
- […] fundus exam for retinal hemorrhages Computed tomography scan (CT or CAT scan) of the head and abdomen Magnetic resonance imaging (MRI) in select cases Lumbar puncture with precautions Skeletal survey Nuclear scan Drug screening Routine blood samples The prognosis[aans.org]
Etiology
- Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.de]
- They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
- OCD and T/TS have also been viewed as distinctly different entities on the basis of differing courses as well as presumed etiologies.[iocdf.org]
Epidemiology
- ICD-10 codes are used to document an individual’s medical condition for epidemiology, research, health insurance billing and reimbursement, and administration.[angelman.org]
- Summary Epidemiology The prevalence is unknown. Approximately 200 cases have been reported to date. It is overrepresented in the Finnish population and in certain Amish, Greek/Mediterranean and Irish families.[orpha.net]
- Adults with 13q deletion syndrome often need support services to maintain their activities of daily living, including adult day care services or housing services. [1] Epidemiology [ edit ] It is incredibly rare, with fewer than 190 cases described. [1[en.wikipedia.org]
- A knowledge of biostatistics is essential in the planning, evaluation and it is fundamental to epidemiology and evidence-based medicine Cilium A cilium is an organelle found in eukaryotic cells.[wikivisually.com]
- Glaucoma Research Foundation [glaucoma.org] The Glaucoma Research Foundation funds innovative clinical, epidemiological and laboratory research.[genome.gov]
Sex distribution
Age distribution
Pathophysiology
- Overview In this article, the author explains the clinical presentation and pathophysiology of Foix-Chavany-Marie syndrome (bilateral anterior opercular syndrome).[medlink.com]
- Deletion of the 13q33.3 band is associated with hypospadias. [1] Other genes in the potentially affected region include NUFIP1, HTR2A, PDCH8, and PCDH17. [2] Pathophysiology [ edit ] This disorder is caused by the deletion of the long arm of chromosome[en.wikipedia.org]
- Progressive supranuclear palsy and corticobasal degeneration: Pathophysiology and treatment options. Current Treatment Options Neurology . 2016, September 2016.[theaftd.org]
- Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May;7(5):256-65. doi: 10.1038/nrcardio.2010.30. Epub 2010 Mar 30. Review. Chaffins JA. Marfan syndrome. Radiol Technol. 2007 Jan-Feb;78(3):222-36; quiz 237-9. Review.[ghr.nlm.nih.gov]
Prevention
- Prevention - MORM syndrome Not supplied. Diagnosis - MORM syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of MORM syndrome.[checkorphan.org]
- Preventive medicine – measures taken for disease prevention, as opposed to disease treatment, psychiatry – branch of medicine that deals with the study, diagnosis and prevention of mental disorders.[wikivisually.com]
- What Can I Do to Prevent HELLP Syndrome? Unfortunately, there's currently no way to prevent this illness.[preeclampsia.org]
- National Eye Institute (NEI) [nei.nih.gov] The NEI conducts and supports research that helps prevent and treat eye diseases and other disorders of vision.[genome.gov]
- Preventing and managing hand-foot syndrome Hand-foot syndrome is usually worse during the first 6 weeks of treatment with targeted therapy . With chemotherapy, it usually appears after 2 to 3 months.[cancer.net]