Fournier et al. (1963) observed a family in which 4 of 5 children had clinical and/or autopsy evidence of pulmonary stenosis and congenital nephrotic syndrome.
Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.
Acephalgic migraine (also called acephalalgic migraine , migraine aura without headache , amigrainous migraine , isolated visual migraine , and optical migraine ) is a neurological syndrome. It is a relatively uncommon variant of migraine in which the patient may experience aura , nausea , photophobia , hemiparesis , and other migraine symptoms , but does not experience headache . [1] It is generally classified as an event fulfilling the conditions of migraine with aura with no (or minimal) headache . [2] [3] It is sometimes distinguished from visual-only migraine aura without headache, also called ocular migraine . [4] Contents 1 Symptoms and misdiagnosis 2 Treatment 3 See also 4 References Symptoms and misdiagnosis [ edit ] Acephalgic migraines can occur in individuals of any age. [5] Some individuals, more commonly male, only experience acephalgic migraine, but frequently patients also experience migraine with headache. [6] Generally, the condition is more than twice as likely to occur in females than males. [7] Pediatric acephalgic migraines are listed along with other childhood periodic syndromes by W.A. ... ISBN 0-86577-766-7 . ^ Panayiotopoulos, Chrysostomos P. (2007). A Clinical Guide to Epileptic Syndromes and Their Treatment (2nd ed.).
Diagnosis Clinical Characteristics Differential Diagnosis Management Surveillance of Children with a Germline Pathogenic Variant or with Wilms Tumor-Associated Syndromes General considerations. The goal of surveillance in individuals with a genetic predisposition to Wilms tumor is to detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. ... Among individuals with Wilms tumor and WAGR syndrome, 90% develop a tumor by age four years and 98% by age seven years [Beckwith 1998b]. Individuals with an 11p15.5 alteration, Beckwith-Wiedemann syndrome (BWS), or isolated hemihyperplasia have a 5% to 7.5% risk of developing Wilms tumor or other malignancies (mainly hepatoblastoma, adrenocortical carcinoma, neuroblastoma, and rhabdomyosarcoma).
Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. ... Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome. Frequency The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people.
It is often considered as part of a group of conditions known collectively as the metabolic syndrome; in addition to NAFLD, the metabolic syndrome includes obesity, type 2 diabetes or pre-diabetes (insulin resistance), high levels of fats (lipids) such as cholesterol and triglycerides in the blood, and high blood pressure (hypertension). However, a person with NAFLD may not have all or any of the other conditions that make up the metabolic syndrome, and individuals with some or all of those conditions may not have NAFLD.
Pathogenesis Henao-Mejia et al. (2012) demonstrated that NLRP6 (609650) and NLRP3 (606416) inflammasomes and the effector protein IL18 (600953) negatively regulate nonalcoholic fatty liver disease/nonalcoholic steatohepatitis progression, as well as multiple aspects of metabolic syndrome via modulation of the gut microbiota. ... Thus, Henao-Mejia et al. (2012) concluded that altered interactions between the gut microbiota and the host, produced by defective NLRP3 and NLRP6 inflammasome sensing, may govern the rate of progression of multiple metabolic syndrome-associated abnormalities, highlighting the central role of the microbiota in the pathogenesis of theretofore seemingly unrelated systemic autoinflammatory and metabolic disorders.
HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features. ... The findings were distinct from those seen in Moebius syndrome, in which the authors found developmental disruption of the entire brainstem and long tracts. Verzijl et al. (2005) concluded that HCFP is a distinct disorder from Moebius syndrome, and suggested that HCFP may be a primary disorder of the fourth rhombomere, from which facial motoneurons arise.
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
One patient had acute nephrotic syndrome and gastroesophageal reflux. Brain malformations included small cerebellum in 1 patient, thinning of the corpus callosum with delayed myelination in another, and cerebral atrophy in the third. ... EEG showed diffuse spike or sharp and slow-wave complexes as well as hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Each had severely delayed psychomotor development, with no head control in 2 and lack of speech in all. ... INHERITANCE - X-linked dominant - Somatic mosaicism (in males) HEAD & NECK Head - Microcephaly Face - Dysmorphic features - Coarse facies - Maxillary prognathism Eyes - Nystagmus - Retinitis pigmentosa - Ocular flutter - Thick eyebrows Nose - Broad nasal bridge Mouth - Open mouth - Thick lips ABDOMEN Gastrointestinal - Gastroesophageal reflux (1 patient) GENITOURINARY Kidneys - Acute nephrotic syndrome (1 patient) SKELETAL Limbs - Shortened extremities MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Epileptic encephalopathy - Delayed psychomotor development, severe - Hypotonia - Seizures - Hypsarrhythmia - Small cerebellum - Cerebral atrophy - Thinning of the corpus callosum - Delayed myelination HEMATOLOGY - Coagulation defects (1 patient) IMMUNOLOGY - Recurrent infections LABORATORY ABNORMALITIES - Abnormal serum transferrin pattern (in some patients) - Loss of galactose and sialic acid from multiple branches of complex type N-glycans (in some patients) MISCELLANEOUS - Onset in infancy - Males carry mutations in the somatic mosaic state - Abnormal transferrin pattern tends to improve with age MOLECULAR BASIS - Caused by mutation in the solute carrier family 35 (UDP-galactose transporter), member 2 gene (SLC35A2, 314375.0001 ) ▲ Close
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
SLC35A2 -congenital disorder of glycosylation ( SLC35A2 -CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals. Individuals with SLC35A2 -CDG typically develop signs and symptoms of the condition early in infancy. Seizures develop within the first months of life, usually involving uncontrollable muscle stiffening (infantile spasms) that can switch to shorter episodes of muscle jerks (epileptic spasms) later in childhood. In some individuals, the seizures do not improve with anti-epileptic medications.
Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen ( splenomegaly ), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen ( splenectomy ).
Bladder syndrome Male urinary bladder Underactive bladder Other names Detrusor underactivity Underactive bladder syndrome ( UAB ) describes symptoms of difficulty with bladder emptying, such as hesitancy to start the stream, a poor or intermittent stream, or sensations of incomplete bladder emptying. ... ISSN 0090-4295 . ^ Rigby, Deborah. "Underactive bladder syndrome" . journals.rcni.com . doi : 10.7748/ns2005.05.19.35.57.c3866 .
The disease so far has only been described from Finland , but exome databases suggest it may be more widely distributed in people of European ancestry. [1] Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes . Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 Prognosis 6 History 7 References 8 External links Presentation [ edit ] Patients experience repeated unilateral attacks of keratitis 1 to 6 times per year, beginning at the age of 5 to 28 years. ... "Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene" . ... "Keratitis fugax hereditaria - a new eye syndrome". Ophthalmologica . 151 (5): 537–547. doi : 10.1159/000304912 .
A number sign (#) is used with this entry because of evidence that keratoendotheliitis fugax hereditaria (KEFH) is caused by heterozygous mutation in the NLRP3 gene (606416) on chromosome 1q44. Description Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye.
Other symptoms may include kidney dysfunction (e.g. Fanconi syndrome ) or neuropsychiatric symptoms (emotional lability, memory impairment, insomnia ). [ citation needed ] Thus, the clinical presentation may resemble pheochromocytoma or Kawasaki disease . [ citation needed ] There is some evidence that the same mercury poisoning may predispose to Young's syndrome (men with bronchiectasis and low sperm count ). [2] Causes [ edit ] Mercury compounds like calomel were historically used for various medical purposes: as laxatives , diuretics , antiseptics or antimicrobial drugs for syphilis , typhus and yellow fever [3] . ... PMID 12023189 . ^ Hendry WF, A'Hern FPA, Cole PJ (1993). "Was Young's syndrome caused by mercury exposure in childhood?"
Central centrifugal cicatricial alopecia Other names Hot comb alopecia and Follicular degeneration syndrome Specialty Dermatology Central centrifugal cicatricial alopecia ( CCCA ), is a type of alopecia first noticed in African Americans in the 1950s and reported by LoPresti et al. in 1968 as a result of application of petrolatum followed by a stove-heated iron comb. ... Consequently, the terms "follicular degeneration syndrome" per Sperling and Sau in 1992 and then CCCA per Olsent et al. in 2003 were evolved. ... It has also been referred to as: [6] [7] Hot comb alopecia Follicular degeneration syndrome Pseudopelade in African Americans Central elliptical pseudopelade in Caucasians Also in this category is cicatricial pattern hair loss (CPHL).
Other terminology included 'follicular degeneration syndrome (FDS),' 'chemically induced cosmetic alopecia,' and 'scarring alopecia in African Americans.'
A number sign (#) is used with this entry because orotic aciduria can be caused by compound heterozygous mutation in the UMPS gene (613891), which encodes a bifunctional enzyme with orotate phosphoribosyltransferase (OPRT) and orotidylic decarboxylase (ODC) activity, on chromosome 3q13. Description Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.
Patients with delusional parasitosis (DP) often arrive at the doctor's office with this medical sign This article is part of a series on Alternative medicine General information Alternative medicine Alternative veterinary medicine Quackery (Health fraud) History of alternative medicine Rise of modern medicine Pseudoscience Antiscience Skepticism Skeptical movement National Center for Complementary and Integrative Health Terminology of alternative medicine Therapeutic nihilism Fringe medicine and science Acupressure Acupuncture Alkaline diet Anthroposophic medicine Apitherapy Applied kinesiology Aromatherapy Auriculotherapy Bates method Black salve Bodywork Bonesetter Bowen technique Breathwork Fake COVID-19 treatments Cancer treatments Charcoal cleanse Chiropractic Chiropractic treatment techniques Vertebral subluxation Christian Science Chromotherapy Colon cleansing Coffee enema Colorpuncture Colloidal silver Craniosacral therapy Crystal healing Cupping therapy Dental amalgam controversy Detoxification Foot detox Ear candling Energy medicine Esoteric energy Therapeutic touch Fabunan Antiviral Injection Facilitated communication Feldenkrais Method Functional medicine Hair analysis Herbal medicine Holistic dentistry Hologram bracelet Homeopathy Bach flower remedies Biological terrain assessment Hypnotherapy Iridology Ionized jewelry Jilly Juice Lightning Process Lymphotherapy Medical intuitive Mesmerism Magnet therapy Manual therapy Megavitamin therapy Mind–body interventions MMS Myofascial release NAET Naturopathy Oil pulling Orgone Orthomolecular medicine Orthopathy Osteomyology Osteopathy Ozone therapy Parapsychology Phrenology Psychic surgery Psychodermatology Radionics Rapid prompting method RBOP Reiki Reflexology Rolfing Scientific racism ThetaHealing Thought Field Therapy Urophagia Vaginal steaming Vision therapy Vitalism Young blood transfusion Zero balancing Conspiracy theories ( list ) Big Pharma conspiracy theory HIV/AIDS denialism OPV AIDS hypothesis Anti-vaccination Vaccines and autism MMR vaccine and autism Water fluoridation controversy GMO conspiracy theories Misinformation related to the COVID-19 pandemic Classifications Alternative medical systems Mind–body intervention Biologically-based therapy Manipulative methods Energy therapy Traditional medicine African Muti Southern Africa Ayurveda Ayurvedic acupressure Dosha Maharishi Vedic Approach to Health Balneotherapy Brazilian Bush medicine Cambodian Chinese Blood stasis Chinese herbology Dit Da Gua sha Gill plate trade Meridian Moxibustion Pressure point Qi San Jiao Tui na Zang-fu Chumash Curandero Faith healing Iranian Jamu Kambo Japanese Korean Mien Shiang Mongolian Prophetic medicine Shamanism Shiatsu Siddha Sri Lankan Thai massage Tibetan Unani Vietnamese Diagnoses Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome v t e The matchbox sign , also referred to as the Ziploc bag sign or the specimen sign , is a psychiatric finding. [1] Patients with delusional parasitosis (DP) often arrive at the doctor's office with this medical sign . [2] People with DP can damage their skin by attempting to remove imaginary parasites via chemical substances or obsessive cleansing.
Now only 15 percent of those with catatonia are considered to have schizophrenia . [ medical citation needed ] See also [ edit ] Catatonia References [ edit ] ^ WIng, Lorna (1998). "The History of Asperger Syndrome" . In Schopler, Eric; Mesibov, Gary B.; Kunce, Linda J. (eds.). Asperger Syndrome or High-Functioning Autism? . Springer. pp. 11–28. ISBN 978-0-306-45746-3 . ^ Wilcox, James Allen; Reid Duffy, Pam (2015-12-09). "The Syndrome of Catatonia" . Behavioral Sciences . 5 (4): 576–588. doi : 10.3390/bs5040576 .