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Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism Omim

INHERITANCE - X-linked recessive GROWTH Height - Short stature HEAD & NECK Face - Long philtrum - Retrognathia Ears - Low-set ears Eyes - Early-onset cataracts (1 family) - Ptosis - Hypertelorism - Deep-set eyes Nose - Wide nose - Broad nose - Flared nares CARDIOVASCULAR Heart - Dilated cardiomyopathy (variable) - Left ventricular enlargement (variable) Vascular - Moyamoya disease - Cerebrovascular disease GENITOURINARY External Genitalia (Male) - Decreased testicular volume Internal Genitalia (Male) - Azoospermia SKELETAL Hands - Small hands - Short, broad fingers SKIN, NAILS, & HAIR Hair - Premature graying NEUROLOGIC Central Nervous System - Acute neurologic deficits due to cerebrovascular disease - Cerebral infarcts - Cerebral hemorrhages - Stroke-like symptoms - Seizures (less common) - Developmental delay (1 family) ENDOCRINE FEATURES - Hypergonadotropic hypogonadism - Growth hormone deficiency MISCELLANEOUS - Three families have been reported (as of 28 June 2011) - Onset of neurologic events can occur between 4 and 35 years of age - Facial dysmorphic features are variable MOLECULAR BASIS - Contiguous gene deletion syndrome caused by deletion (3.4 kb) of chromosome Xq28 ▲ Close

BRCC3
- Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome Orphanet
  
  Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Epidemiology The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease (see this term) is highest in Japan and other Asian countries, in comparison with other parts of the world. Clinical description Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism, and other variable manifestations including stroke, hypertension, dilated cardiomyopathy (see this term), premature coronary heart disease, premature hair graying, azoospermia, and early bilateral acquired cataract. Moyamoya angiopathy causes cerebral infarcts or hemorrhage and acute neurological symptoms.
Disinhibited Attachment Disorder Wikipedia

"Reactive attachment disorder in maltreated toddlers". Child Abuse Negl . 28 (8): 877–88. doi : 10.1016/j.chiabu.2004.01.010 .
Spastic Ataxia 5, Autosomal Recessive Omim

Heterozygous mutation in the AFG3L2 gene causes autosomal dominant spinocerebellar ataxia-28 (SCA28; 610246). Description Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011).

AFG3L2, TUBB6
- Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome Orphanet
  
  Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly Omim

In addition, all of the patients who underwent hematologic examination (22 patients from 21 families) had a high frequency of hypolobulation of granulocyte nuclei, characteristic of Pelger-Huet anomaly. Features seen in at least 28 (82%) of the 34 patients included a brachycephalic skull with hypoplasia of the frontal and parietal tubers and narrow forehead, long senile face with small features, small orbits, bilateral exophthalmos, hypoplastic cheekbones, straight nose with prominent glabella, long philtrum, thin lips, high voice with harsh timber, short neck, hypermobility of small joints, muscular hypotonia, and wide feet with high arch.

NBAS
- Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome Orphanet
  
  A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.
Winter-Over Syndrome Wikipedia

. ^ "How cold is the Antarctic?" . NIWA . 2007-02-28 . Retrieved 2019-09-21 . ^ Palinkas LA, Reed HL, Do NV (1997).
Echopraxia Wikipedia

"Catatonia in autistic disorder: a sign of comorbidity or variable expression?". J Autism Dev Disord . 21 (4): 517–28. doi : 10.1007/BF02206874 . PMID 1778964 . ^ Pridmore S, Brüne M, Ahmadi J, Dale J (July 2008).
Monomania Wikipedia

ISBN 0-521-43736-9 . ^ Valverde, Mariana (1998-10-28). Diseases of the Will: Alcohol and the Dilemmas of Freedom .
Hypophysitis Wikipedia

Archived from the original on 2004-05-28. ^ a b Caturegli P (June 2007). "Autoimmune hypophysitis: an underestimated disease in search of its autoantigen(s)" .

CTLA4, CD274, POMC, SMUG1, GPT, PDCD1, NKX2-1, PRL, ITM2B, TTF1, SLC20A1, BRAF, POU1F1, CD74, HLA-DOA, GH1, FMR1, DIAPH2, POF1B
Blue Diaper Syndrome Wikipedia

"Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule". Arch Pharm Res . 28 (4): 421–32. doi : 10.1007/BF02977671 .
- Blue Diaper Syndrome Orphanet
  
  Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. Epidemiology The prevalence is unknown. Clinical description Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been reported. The disease is associated with a defect in intestinal tryptophan absorption that leads to a bluish discoloration of the urine when it comes into contact with the air. Etiology The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two amino acid transporters. Genetic counseling Transmission may be autosomal recessive or X-linked.
- Blue Diaper Syndrome Gard
  
  Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys ( nephrocalcinosis ) leading to impaired kidney function and possible kidney failure . The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan.
- Blue Diaper Syndrome Omim
  
  Hypercalcemia and nephrocalcinosis are associated with a defect in the intestinal transport of tryptophan. Bacterial degradation of the tryptophan leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Drummond et al. (1964) reported 2 affected brothers. Although almost certainly recessive, the disorder could be X-linked. Libit et al. (1972) suggested that the blue diaper syndrome can result from blue-green discoloration of the stools by a pigment elaborated by Pseudomonas aeruginosa. Misc - Diapers colored bluish GI - Intestinal tryptophan transport defective Renal - Nephrocalcinosis Lab - Hypercalcemia - Indicanuria Inheritance - Autosomal recessive vs. x-linked ▲ Close
Superior Oblique Myokymia Wikipedia

"Remission of superior oblique myokymia after microvascular decompression". Ophthalmologica . 214 (6): 426–28. doi : 10.1159/000027537 . PMID 11054004 . ^ Yousry I, Dieterich M, Naidich TP, Schmid UD, Yousry TA (March 2002).
Cabin Fever Wikipedia

. ^ "Definition of stir-crazy | Dictionary.com" . www.dictionary.com . Retrieved 2019-11-28 . ^ Ron Alexander (2004-02-03). "Reports From the Bunkers, by Some Survivors; Homebound and Happy" .
Abortion In Slovenia Wikipedia

Archived from the original on 2017-09-26 . Retrieved 2017-09-28 . CS1 maint: archived copy as title ( link ) v t e Abortion in Europe Sovereign states Albania Andorra Armenia Austria Azerbaijan Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Cyprus Czech Republic Denmark Estonia Finland France Georgia Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Turkey Ukraine United Kingdom England Northern Ireland Scotland Wales Vatican City States with limited recognition Abkhazia Artsakh Kosovo Northern Cyprus South Ossetia Transnistria v t e Abortion Main topics Definitions History Methods Abortion debate Philosophical aspects Abortion law Movements Abortion-rights movements Anti-abortion movements Issues Abortion and mental health Beginning of human personhood Beginning of pregnancy controversy Abortion-breast cancer hypothesis Anti-abortion violence Abortion under communism Birth control Crisis pregnancy center Ethical aspects of abortion Eugenics Fetal rights Forced abortion Genetics and abortion Late-term abortion Legalized abortion and crime effect Libertarian perspectives on abortion Limit of viability Malthusianism Men's rights Minors and abortion Natalism One-child policy Paternal rights and abortion Prenatal development Reproductive rights Self-induced abortion Sex-selective abortion Sidewalk counseling Societal attitudes towards abortion Socialism Toxic abortion Unsafe abortion Women's rights By country Africa Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde Central African Republic Chad Egypt Ghana Kenya Namibia Nigeria South Africa Uganda Zimbabwe Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor Georgia India Iran Israel Japan Kazakhstan South Korea Malaysia Nepal Northern Cyprus Philippines Qatar Saudi Arabia Singapore Turkey United Arab Emirates Vietnam Yemen Europe Albania Andorra Austria Belarus Belgium Bosnia and Herzegovina Bulgaria Croatia Czech Republic Denmark Estonia Finland France Germany Greece Hungary Iceland Ireland Italy Kazakhstan Latvia Liechtenstein Lithuania Luxembourg Malta Moldova Monaco Montenegro Netherlands North Macedonia Norway Poland Portugal Romania Russia San Marino Serbia Slovakia Slovenia Spain Sweden Switzerland Ukraine United Kingdom North America Belize Canada Costa Rica Cuba Dominican Republic El Salvador Guatemala Mexico Nicaragua Panama Trinidad and Tobago United States Oceania Australia Micronesia Fiji Kiribati Marshall Islands New Zealand Papua New Guinea Samoa Solomon Islands Tonga Tuvalu Vanuatu South America Argentina Bolivia Brazil Chile Colombia Ecuador Guyana Paraguay Peru Suriname Uruguay Venezuela Law Case law Constitutional law History of abortion law Laws by country Buffer zones Conscientious objection Fetal protection Heartbeat bills Informed consent Late-term restrictions Parental involvement Spousal consent Methods Vacuum aspiration Dilation and evacuation Dilation and curettage Intact D&X Hysterotomy Instillation Menstrual extraction Abortifacient drugs Methotrexate Mifepristone Misoprostol Oxytocin Self-induced abortion Unsafe abortion Religion Buddhism Christianity Catholicism Hinduism Islam Judaism Scientology Category This abortion -related article is a stub .
Haemolacria Wikipedia

. ^ "Indian Girl Cries Tears of Blood" . 2009-05-14. ^ Kleber Tomaz (28 June 2011). "Médicos investigam caso de garota que 'chora' sangue no interior de SP" . ^ "WATCH: Tears Of Blood?"
Hypermetabolism Wikipedia

University of Michigan Kellogg Eye Center. Archived from the original on 28 March 2013 . Retrieved 29 November 2012 . ^ "Re-Feeding" .
Global Acute Malnutrition Wikipedia

External links [ edit ] "WEST AFRICA - Global Acute Malnutrition (GAM) Prevalence" (PDF) . ReliefWeb. 28 May 2009 . Retrieved 2011-08-08 .
Quadricuspid Aortic Valve Wikipedia

Quadricuspid aortic valve: a report of 12 cases and a review of the literature. Echocardiography, 28(9), 1035-1040. ^ a b c Godefroid, O., Colles, P., Vercauteren, S., Louagie, Y., & Marchandise, B. (2006).

TNXB
- Quadricuspid Aortic Valve Orphanet
  
  A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.
Overflow Incontinence Wikipedia

New York: WebMD . Retrieved 2012-07-28 . ^ Christopher M. Tarnay, MD & Narender N.
Myopia In Animals Wikipedia

Retrieved 31 October 2012 . ^ Schmid, Klaus (28 June 2004). Myopia Manual . Pagefree Publishing. p. 96.
Hiv/aids In The United Arab Emirates Wikipedia

U.S. DEPARTMENT of STATE. February 28, 2005 . Retrieved Jan 9, 2009 . 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 HIV/AIDS in Asia Sovereign states Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Brunei Cambodia China Cyprus East Timor (Timor-Leste) Egypt Georgia India Indonesia Iran Iraq Israel Japan Jordan Kazakhstan North Korea South Korea Kuwait Kyrgyzstan Laos Lebanon Malaysia Maldives Mongolia Myanmar Nepal Oman Pakistan Philippines Qatar Russia Saudi Arabia Singapore Sri Lanka Syria Tajikistan Thailand Turkey Turkmenistan United Arab Emirates Uzbekistan Vietnam Yemen States with limited recognition Abkhazia Artsakh Northern Cyprus Palestine South Ossetia Taiwan Dependencies and other territories British Indian Ocean Territory Christmas Island Cocos (Keeling) Islands Hong Kong Macau Book Category Asia portal
Collie Eye Anomaly Wikipedia

Archived from the original on 2006-07-15 . Retrieved 2006-07-28 . External links [ edit ] Informational website for CEA Optigen: Collie Eye Anomaly / Choroidal Hypoplasia (CEA) Test