Presentation
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]
[…] 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]
[…] similar to the presentation of Common Variable Immune Deficiency. [primaryimmune.org]
Acute presentation Upon arrival, patients with TTS are often indistinguishable from those presenting with ACS. [academic.oup.com]
Entire Body System
- Abdominal Obesity
[…] syndrome) MC3R Obesity due to MC3R deficiency MC4R Obesity MKKS Bardet-Biedl syndrome, McKusick-Kaufman syndrome MKS1 Bardet-Biedl syndrome, Meckel syndrome NR0B2 Obesity, mild, early-onset NTRK2 Obesity, hyperphagia, and developmental delay PCSK1 Proprotein [genda.com.ar]
Respiratoric
- Delayed Speech Development
[…] and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed [rarediseases.info.nih.gov]
Eyes
- 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]
Urogenital
- Pelvic Pain
MalaCards based summary : Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome, also known as morm syndrome, is related to penile disease and bardet-biedl syndrome 1, and has symptoms including pelvic pain An important gene [malacards.org]
Neurologic
- Language Delays
[…] and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed [rarediseases.info.nih.gov]
Homepage Rare diseases Search Search for a rare disease Disease definition A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive [orpha.net]
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
Affiliated tissues include eye and retina, and related phenotypes are cataract and delayed speech and language development Wikipedia : 73 MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal... more. [malacards.org]
[…] and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed [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]
Serum
- Hypertriglyceridemia
suggesting the presence of distinct… Expand Primary objective: The prevalence of osteoporotic fracture is higher in non-Hispanic Caucasian (NHC) than Mexican-American (MA… Expand A novel lipodystrophy syndrome (characterized by insulin resistance, hypertriglyceridemia [semanticscholar.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]
Treatment Although no cure currently exists for dystonia, there are several treatment options available to alleviate the symptoms. Botulinum Toxin injections in the facial musculature are considered the most effective treatment to date. [dystonia.org.uk]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
[…] service, product or treatment in your circumstances. [leukaemia.org.au]
Food and Drug Administration (FDA)-approved therapies for the treatment of Angelman syndrome. [angelman.org]
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]
Glaucoma Research Foundation [glaucoma.org] The Glaucoma Research Foundation funds innovative clinical, epidemiological and laboratory research. [genome.gov]
Global epidemiological study of variation of premenstrual symptoms with age and sociodemographic factors. Menopause International; 17(3): 96–101. Rapkin A. (2003). A review of treatment of premenstrual syndrome and premenstrual dysphoric disorder. [womenshealth.gov]
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]
What Can I Do to Prevent HELLP Syndrome? Unfortunately, there's currently no way to prevent this illness. [preeclampsia.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]
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]
Can Munchausen Syndrome By Proxy Be Prevented? There is no known way to prevent this disorder. [webmd.com]