There were no obvious signs of vestibular dysfunction, retinitis pigmentosa, or other syndromic phenotypes cosegregating with hearing loss in the 3 families. ... Adato et al. (1999) discussed possible digenic inheritance of deafness in families they studied and pointed out that one of the loci, 3q21.3-q25.2, included the Usher syndrome type 3 locus (USH3; 276902) and the other, 19p13.3-p13.1, included the MYO1F gene (601480), which is a member of the unconventional myosin group. ... In 1 family (PKDF219), which was later found to segregate Perrault syndrome-3 (PRLTS3; 614129), they obtained maximum 2-point lod scores of 3.01 at marker D19S1034.
Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.
Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... Mapping To study the genetics of autism, Alarcon et al. (2002) divided the syndrome into component autism-related traits (endophenotypes), hypothesizing that quantitative trait loci (QTLs) related to one or more of these traits might underlie putative or significant regions of autism linkage.
Tromp et al. (1993) demonstrated a point mutation in the gene for type III collagen (120180.0018) in this patient, who was later found to have Ehlers-Danlos syndrome type IV (130050). Fibromuscular dysplasia of arteries has also been observed in cutis laxa (219100). ... Molecular Genetics Associations Pending Confirmation Guo et al. (2017) demonstrated that biallelic mutations in the YY1AP1 gene (607860) cause Grange syndrome (602531), a disorder that encompasses features of fibromuscular dysplasia. ... Noting that the mother of 3 sibs with Grange syndrome who was heterozygous for a nonsense mutation in YY1AP1 (607860.0001) had refractory hypertension due to left renal artery stenosis, Guo et al. (2017) suggested that heterozygous loss-of-function YY1AP1 mutations might be associated with susceptibility to FMDA in the general population.
Complications of cerebrovascular FMD include TIA, ischemic stroke , Horner syndrome , or subarachnoid hemorrhage . [1] [2] [3] Other sites [ edit ] Patients with mesenteric, or intestinal FMD, may experience abdominal pain after eating or weight loss. ... FMD present in the subclavian artery may cause arm weakness, parenthesis, claudication, and subclavial steal syndrome. [6] Children [ edit ] Children with FMD often report various non-specific symptoms or present with hypertension during routine physical examinations. ... This syndrome should be suspected in patients with multiple aneurysms and/or tears (dissections) in arteries in addition to the typical angiographic findings of FMD. There have been isolated reports of FMD associated with other disorders, including Alport syndrome , pheochromocytoma , Marfan syndrome , Moyamoya disease , and Takayasu's arteritis . [9] Cause [ edit ] While the cause of FMD remains unclear, current theory suggest that there may be a genetic predisposition as case reports have identified clusters of the disease and prevalence among twins. [7] In fact, according to the Cleveland Clinic approximately 10% of cases appear to be inherited and often coexists with other genetic abnormalities that affect the blood vessels. ... Children [ edit ] The differentiating presentations are suggestive of FMD being a unique syndrome in respect to the pediatric population.
Overview Fibromuscular dysplasia is a condition that causes the medium-sized arteries in the body to narrow and grow larger. Narrowed arteries can reduce blood flow and affect how body organs work. Fibromuscular dysplasia is most often seen in the arteries leading to the kidneys and brain. But it also can affect arteries in the legs, heart, belly area and, rarely, the arms. More than one artery can be involved. Treatments are available to control symptoms and help prevent complications, such as stroke.
Makita et al. (2005) studied a Japanese boy who at 3 years of age presented with severe bradycardia and was diagnosed with sick sinus syndrome (see SSS1, 608567) with paroxysmal atrial fibrillation based on Holter ECG recordings. ... In a Japanese family in which an 11-year-old boy had sick sinus syndrome that progressed to atrial standstill, Makita et al. (2005) analyzed 3 cardiac ion channel genes previously associated with atrial standstill, atrial fibrillation, or sick sinus syndrome: SCN5A, HCN4 (605206), and GJA5.
Diagnosis at onset was idiopathic atrial dilation, associated with AS in 7 and bradycardia-tachycardia syndrome in 6; the latter group developed AS during follow-up. ... Electrophysiologic studies over time showed progressive lowering of atrial voltages and bradycardia-tachycardia syndrome evolving to AS. Mapping Disertori et al. (2013) performed a genome scan in 'family 1' of Disertori et al. (1983) with atrial standstill and found a single region of interest, on chromosome 1p36.32-p36.13.
Synonymous or similar disorders include affectionless psychopathy and institutional syndrome . Within the ICD-10 category scheme, disinhibited attachment disorder specifically excludes Asperger syndrome (F84.5), hospitalism in children (F43.2), and hyperkinetic disorders (F90.-). ... External links [ edit ] Classification D ICD - 10 : F94.2 v t e Emotional and behavioral disorders Emotional/behavioral ADHD Conduct disorder Oppositional defiant disorder Emotional/behavioral disorder (EBD) Separation anxiety Social functioning Selective mutism RAD DAD Tic disorders Tourette syndrome Speech disorders Stuttering Cluttering Stereotypic movement disorder Elimination disorders Enuresis Encopresis v t e Attachment theory Theory Affectional bond Attachment in adults Attachment in children Attachment disorder Attachment and Health Attachment measures Attachment theory Dynamic-Maturational Model of Attachment and Adaptation Fathers as attachment figures Human bonding Maternal deprivation Object relations theory Reactive attachment disorder Notable theorists Mary Ainsworth William E.
Echopraxia (also known as echokinesis [1] ) is the involuntary repetition or imitation of another person's actions. [1] Similar to echolalia , the involuntary repetition of sounds and language, it is one of the echophenomena ("automatic imitative actions without explicit awareness"). [1] It has long been recognized as a core feature of Tourette syndrome , [1] and is considered a complex tic , but it also occurs in autism spectrum disorders, [1] [2] schizophrenia and catatonia , [1] [3] aphasia , and disorders involving the startle reflex such as latah . [1] [4] Echopraxia has also been observed in individuals with frontal lobe damage, [5] epilepsy , dementia and autoimmune disorders ; [1] the causes of and the link between echopraxia and these disorders is undetermined. [6] The etymology of the term is from Ancient Greek: " ἠχώ (ēkhō) from ἠχή (ēkhē "sound") and " πρᾶξις (praksis, "action, activity, practice)". [7] Contents 1 Characteristics 2 Causes and pathophysiology 3 Diagnosis 4 References Characteristics [ edit ] Echopraxia is the involuntary mirroring of an observed action. ... Imitative learning and emulation of physical and verbal actions are critical to early development (up to the age of two or three), but when these behaviors become reactions rather than a means for learning, they are considered echophenomena (copying behaviors). [1] Causes and pathophysiology [ edit ] Echopraxia is a typical symptom of Tourette syndrome but causes are not well elucidated. [1] Frontal lobe animation One theoretical cause subject to ongoing debate surrounds the role of the mirror neuron system (MNS), a group of neurons in the inferior frontal gyrus (F5 region) of the brain that may influence imitative behaviors, [1] but no widely accepted neural or computational models have been put forward to describe how mirror neuron activity supports cognitive functions such as imitation. [8] Diagnosis [ edit ] There is no formal test for diagnosing echopraxia. ... "The pathophysiology of echopraxia/echolalia: relevance to Gilles de la Tourette syndrome". Mov. Disord . 27 (10): 1222–9. doi : 10.1002/mds.25103 .
Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.
Accessory navicular bone may cause a continuous stretch and stress on the tibialis posterior tendon which can progress to chronic disabling pain and may cause tendon rupture or secondary flat foot deformity; when this occurs this condition is commonly known as accessory navicular syndrome . [4] Other conditions which closely mimic the symptoms of an accessory navicular bone include plantar fasciitis , bunions and heel spurs . ... Diagnosis [ edit ] To diagnose accessory navicular syndrome, the foot and ankle surgeon will ask about symptoms and examine the foot, looking for skin irritation or swelling. ... The Egyptian Rheumatologist . 39 (4): 263–266. doi : 10.1016/j.ejr.2017.02.003 . ^ "Accessory Navicular Syndrome - Foot Health Facts" . ^ "Accessory Navicular Diagnosed & Treated by Foot Surgeons - Mercy in Baltimore" .
This trait, present in about 5% of persons, causes an undue prominence on the medial side of the foot. It is sometimes referred to as an accessory or secondary medial malleolus. Sometimes it is fused with the navicular to form an abnormally large tuberosity on the latter bone (Moseley, 1957). Geist (1925) reported that 10 to 14% of 'normal' feet have an accessory navicular bone. It can be symptomatic and even require surgical treatment in some instances.
Cite journal requires |journal= ( help ) External links [ edit ] Classification D ICD - 10 : Q55.2 v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism
ISBN 0-7216-2921-0 . v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji This infection-related cutaneous condition article is a stub .
In this way, if there is doubt about whether the patient has too much thyroid hormone because of de Quervain's thyroiditis, then measuring radio-iodine uptake or technetium uptake gives a clear cut answer as it will be higher than normal in standard thyrotoxicosis and lower than normal in de Quervain's. [ citation needed ] Treatment [ edit ] Treatment is beta blockers , aspirin , and NSAIDs (or corticosteroids if NSAIDs are ineffective). [ citation needed ] Eponym [ edit ] It is named for Fritz de Quervain . [1] It should not be confused with De Quervain syndrome . Terminology [ edit ] It is sometimes called subacute thyroiditis , [2] but there are other forms of subacute thyroiditis, subacute lymphocytic thyroiditis , postpartum thyroiditis , and autoimmune thyroiditis all of which, in contrast to de Quervain's, are typically painless or "silent". ... External links [ edit ] Classification D ICD - 10 : E06.1 ICD - 9-CM : 245.1 MeSH : D013968 DiseasesDB : 3474 External resources MedlinePlus : 000375 eMedicine : med/534 v t e Thyroid disease Hypothyroidism Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Myxedema coma Euthyroid sick syndrome Signs and symptoms Queen Anne's sign Woltman sign Thyroid dyshormonogenesis Pickardt syndrome Hyperthyroidism Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Thyroid storm Graves' disease Signs and symptoms Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign lid lag Griffith's sign Möbius sign Pretibial myxedema Graves' ophthalmopathy Thyroiditis Acute infectious Subacute De Quervain's Subacute lymphocytic Palpation Autoimmune /chronic Hashimoto's Postpartum Riedel's Enlargement Goitre Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule Colloid nodule
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy .
A pinealoma may disrupt production of this hormone, and insomnia may result. [ citation needed ] Frequently, paralysis of upward gaze along with several ocular findings such as convergence retraction nystagmus and eyelid retraction also known as Collier's sign and Light Near Dissociation (pupil accommodates but doesn't react to light) are known collectively as Parinaud's syndrome [1] or Dorsal Mid-brain syndrome, are the only physical symptoms seen. ... Work-up usually includes Neuro-imaging as seen on the right. [ citation needed ] A pinealoma may cause interruption of hypothalamic inhibiting pathways, sometimes leading to beta-hCG secretion and consequent Leydig's cell stimulation (endocrine syndrome). [ citation needed ] Other symptoms may include hydrocephalus , gait disturbances , and precocious puberty . [ citation needed ] Cause [ edit ] Pinealomas can be due to proliferation of primary pineocytes ( pineocytomas , pineoblastomas), astrocytes ( astrocytoma ), or germ cells ( germinoma ). [2] Germinomas are the most common tumor in the pineal gland. [ citation needed ] Diagnosis [ edit ] This section is empty.
Description GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. ... Clinical Features Stevens et al. (2016) reported 4 unrelated children with a similar intellectual disability syndrome. The patients presented at birth with respiratory insufficiency, hypotonia, and feeding problems. ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature Other - Poor overall growth HEAD & NECK Head - Microcephaly (in 1 of 4 patients) Face - Triangular face - Pointed chin - Coarse face - Smooth philtrum - Frontal bossing Ears - Abnormally shaped ears Eyes - Epicanthal folds - Telecanthus - Downslanting palpebral fissures - Upslanting palpebral fissures - Short palpebral fissures - Hyperopia Nose - Prominent columella Mouth - Wide mouth CARDIOVASCULAR Heart - Cardiac defects (in 2 of 4 patients) - Patent ductus arteriosus - Aortic coarctation - Mitral valve stenosis - Hypoplastic left heart syndrome RESPIRATORY - Respiratory insufficiency, neonatal ABDOMEN Gastrointestinal - Poor feeding GENITOURINARY Kidneys - Cystic kidneys (in 2 of 4 patients) - Dysplastic kidneys (in 2 of 4 patients) SKELETAL Feet - Club feet - Flat feet MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Delayed walking - Intellectual disability - Poor speech - Thin corpus callosum - Absent corpus callosum - Enlarged ventricles ENDOCRINE FEATURES - Growth hormone deficiency (1 patient) MISCELLANEOUS - Four unrelated patients have been reported (last curated December 2016) - Variable phenotype - De novo mutation MOLECULAR BASIS - Caused by mutation in the zinc finger protein 148 (ZNF148, 601897.0001 ) ▲ Close