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Hypobetalipoproteinemia, Familial, 2
Omim
Description Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. ... In the first kindred, the proband was a 65-year-old woman who presented with very low plasma lipid levels at 52 years of age, including low total, LDL, and HDL cholesterol, triglyceride, and apoA1 and apoB levels. ... In the second kindred, the proband was a healthy 59-year-old man who presented with low total, LDL, and HDL cholesterol and triglyceride levels. ... Heterozygous carriers of the ANGPTL3 mutations had low plasma ANGPTL3 and moderately reduced LDL cholesterol but normal plasma HDL cholesterol. ... INHERITANCE - Autosomal recessive LABORATORY ABNORMALITIES - Low LDL cholesterol - Low triglycerides - Low to very low HDL cholesterol - Low apolipoprotein - Marked hypobetalipoproteinemia - Marked hypoalphalipoproteinemia (in some patients) - Near-complete absence of VLDL peak on density gradient ultracentrifugation (in some patients) MISCELLANEOUS - Heterozygotes have plasma levels of triglycerides and/or HDL cholesterol that are intermediate between homozygotes and unaffected individuals MOLECULAR BASIS - Caused by mutation in the angiopoietin-like-3 gene (ANGPTL3, 604774.0001 ) ▲ Close
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Apparent Mineralocorticoid Excess
Omim
Description Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. ... Clinical Features Werder et al. (1974) reported a 3-year-old girl with low birth weight, short stature, polydipsia, polyuria, and hypertension in the absence of genital anomalies. ... There was hypertension and hypokalemic alkalosis in the presence of low plasma renin activity and subnormal levels of aldosterone and other known mineralocorticoids. The symptoms responded to spironolactone administration or a low sodium diet, suggesting that they are mediated by the mineralocorticoid receptor. ... Although the patient lacked hypokalemia and low birth weight and had only mild hypertension, New and Wilson (1999) established the diagnosis for AME genetically.
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Febrile Neutropenia
Wikipedia
Febrile neutropenia Specialty Hematology Febrile neutropenia is the development of fever , often with other signs of infection , in a patient with neutropenia , an abnormally low number of neutrophil granulocytes (a type of white blood cell ) in the blood. ... CISNE is able to discriminate groups of patients who are at low, intermediate, and high risk of complications in this population. ... "The Multinational Association for Supportive Care in Cancer risk index: A multinational scoring system for identifying low-risk febrile neutropenic cancer patients". ... "Performance of a modified MASCC index score for identifying low-risk febrile neutropenic cancer patients". ... "Outpatient treatment for people with cancer who develop a low-risk febrile neutropaenic event" .CSF3, MBL2, CRP, UGT1A1, CSF2, ANC, ALB, CXCL8, IL6, GPT, ABCB1, CHPT1, DHDDS, UGT1A7, XRCC1, SLCO1A2, TAZ, THAS, TLR4, TP53, TPMT, UGT1A, ZIC3, TREM1, MCPH1, HPSE2, CARTPT, KLK4, REG1A, WDHD1, MBL3P, NUDT15, ADRM1, MSH3, PAEP, MTHFR, CCR5, CYP3A5, ACE, ERBB2, ERCC1, ERCC2, FGFR4, FMO3, GSTP1, IFNG, IL1A, IL1B, IL2, ITPA, LAMC2, LBP, MAP6, MDM2, MDM4, ABCC1, CD14, SLC22A16
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Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7
Omim
A number sign (#) is used with this entry because of evidence that low density lipoprotein cholesterol level (LDLCQ7) is associated with variation in the NPC1L1 gene (608010) on chromosome 7p13. ... Clinical Features Cohen et al. (2006) used the nonsynonymous (NS) sequence variant technique to determine whether genetic variation in NPC1L1 contributes to variability in cholesterol absorption and plasma levels of low density lipoproteins. To estimate sterol absorption, they measured the ratio of campesterol to lathosterol (Ca:L ratio) in plasma, a high Ca:L ratio indicating a high rate of intestinal absorption of cholesterol, and a low Ca:L ration indicating a low absorption of cholesterol. In a study of 296 low absorbers and 296 high absorbers, equally divided by African American/white and male/female, from the Dallas Heart Study, nonsynonymous sequence variations in NPC1L1 were 5 times more common in low absorbers (26 individuals) than in high absorbers (5 individuals). The rare variants identified in low absorbers were found in 6% of 1,832 African Americans and were associated with lower plasma levels of LDL cholesterol (96 +/- 36 mg/dl vs 105 +/- 36 mg/dl; p = 0.005). ... Patients showed wide interindividual variability, with decreases in plasma LDL-C ranging from -47.7% to -13.4%. Molecular Genetics Low Density Lipoprotein Levels Chen et al. (2009) screened the NPC1L1 gene in 50 Chinese individuals and identified a genomic -762C-T promoter polymorphism (rs2073548) that was found in 34% of individuals.
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Squalene Synthase Deficiency
Omim
Description Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). ... The 7-year-old brother had bilateral cryptorchidism, large ears, and dorsal foot fat pads. The 10-year-old sister had low-set, posteriorly rotated ears. Both had thin gracile bones, flexion deformities at the knees, and 2/3 toe syndactyly. Dry skin with photosensitivity was present, and lack of hair pigment was seen on light and electron microscopy. Total and low density lipoprotein (LDL) cholesterol were low in both, while high density lipoprotein cholesterol (HDL-C) was low for the sister, but normal for the brother. Very low density lipoprotein (VLDL) and triglycerides were normal. ... He had hypospadias without cryptorchidism, bicuspid aortic valve, and flexion deformities of elbows rather than knees. Total cholesterol and LDL-C were low, with normal HDL-C and triglycerides.
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Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Omim
Clinical Features Nowaczyk and Sutcliffe (1999) described 2 sibs, a 2.5-year-old girl and a 10-month-old boy, with an apparently novel combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. ... INHERITANCE - Autosomal recessive GROWTH Height - Low birth height Weight - Low birth weight HEAD & NECK Head - Trigonocephaly - Prominent occiput - Microcephaly Face - Midface hypoplasia - Long, flat philtrum - Short, smooth philtrum - Round face - Prominent cheeks - Retrognathia, mild Ears - Low-set ears - Sensorineural hearing loss - Recurrent otitis media - Posteriorly rotated ears - Thick helix - Prominent antihelix - Softened antitragus Eyes - Blepharophimosis - Ptosis - Telecanthus - Long eyelashes - Vertically inserted eyelashes Nose - Bulbous nose - Stubby nose - Flat tip of nose - Thick Columella - Wide alae nasi Mouth - Small mouth - High-arched palate - Narrow palate Neck - Redundant nuchal skin RESPIRATORY Larynx - Laryngomalacia CHEST Breasts - Supernumerary nipple ABDOMEN Gastrointestinal - Feeding problems GENITOURINARY External Genitalia (Male) - Hypospadias - Shawl scrotum - Curved penis - Constriction ring in the proximal part of the penis - Cleft prepuce - Glanular hypospadias External Genitalia (Female) - Hypoplastic labia majora SKELETAL Skull - Ridged metopic suture Hands - Fifth finger clinodactyly - Proximally placed thumbs - Adducted thumbs - Deep palmar creases Feet - Talipes equinovarus SKIN, NAILS, & HAIR Skin - Facial capillary hemangioma Nails - Dystrophic toenails Hair - Laterally displaced hair whorl - Low anterior hairline - Low posterior hairline - Long eyelashes - Vertically inserted eyelashes NEUROLOGIC Central Nervous System - Hypotonia - Mental retardation - Bilateral small-sized cysts of the choroid plexus - Paraventricular cyst in the area of the caudate nucleus - Enlargement of lateral ventricles, mild - Epilepsy - Leukomalacia along the walls of the occipital horns of lateral ventricles MISCELLANEOUS - Based on reports of 2 families (last curated May 2013) ▲ Close
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Adrenal Insufficiency
Wikipedia
If not treated, adrenal insufficiency may result in abdominal pains, vomiting, muscle weakness and fatigue, depression , low blood pressure , weight loss, kidney failure, changes in mood and personality, and shock (adrenal crisis). [4] An adrenal crisis may occur if the body is subjected to stress, such as an accident, injury, surgery, or severe infection; death may quickly follow. [4] Adrenal insufficiency can also occur when the hypothalamus or the pituitary gland does not make adequate amounts of the hormones that assist in regulating adrenal function. [1] [5] [6] This is called secondary or tertiary adrenal insufficiency and is caused by lack of production of ACTH in the pituitary or lack of CRH in the hypothalamus, respectively. [7] Contents 1 Types 2 Signs and symptoms 3 Causes 3.1 Corticosteroid withdrawal 3.2 Adrenal dysgenesis 3.3 Impaired steroidogenesis 3.4 Adrenal destruction 4 Pathophysiology 5 Diagnosis 5.1 Effects 6 Treatment 7 See also 8 References 9 Further reading 10 External links Types [ edit ] There are three major types of adrenal insufficiency. ... Additional signs and symptoms include weakness, tiredness, dizziness, low blood pressure that falls further when standing ( orthostatic hypotension ), cardiovascular collapse , muscle aches , nausea , vomiting , and diarrhea . ... Autoimmune destruction of the adrenal cortex is caused by an immune reaction against the enzyme 21-hydroxylase (a phenomenon first described in 1992). [20] This may be isolated or in the context of autoimmune polyendocrine syndrome (APS type 1 or 2), in which other hormone-producing organs, such as the thyroid and pancreas , may also be affected. [21] Adrenal destruction is also a feature of adrenoleukodystrophy (ALD), and when the adrenal glands are involved in metastasis (seeding of cancer cells from elsewhere in the body, especially lung ), hemorrhage (e.g. in Waterhouse–Friderichsen syndrome or antiphospholipid syndrome ), particular infections ( tuberculosis , histoplasmosis , coccidioidomycosis ), or the deposition of abnormal protein in amyloidosis . [22] Pathophysiology [ edit ] Hyponatremia can be caused by glucocorticoid deficiency. Low levels of glucocorticoids leads to systemic hypotension (one of the effects of cortisol is to increase peripheral resistance), which results in a decrease in stretch of the arterial baroreceptors of the carotid sinus and the aortic arch. ... In order to check for Addison's Disease, the auto-immune type of primary adrenal insufficiency, labs should be drawn to check 21-hydroxylase autoantibodies. [ citation needed ] Effects [ edit ] Source of pathology CRH ACTH DHEA DHEA-S cortisol aldosterone renin Na K Causes 5 hypothalamus (tertiary) 1 low low low low low 3 low low low low tumor of the hypothalamus (adenoma), antibodies , environment (i.e. toxins), head injury pituitary (secondary) high 2 low low low low 3 normal low low normal tumor of the pituitary ( adenoma ), antibodies, environment, head injury, surgical removal 6 , Sheehan's syndrome adrenal glands (primary) 7 high high high high low 4 low high low high tumor of the adrenal (adenoma), stress , antibodies, environment, Addison's disease , trauma , surgical removal ( resection ), miliary tuberculosis of the adrenal 1 Automatically includes diagnosis of secondary (hypopituitarism) 2 Only if CRH production in the hypothalamus is intact 3 Value doubles or more in stimulation 4 Value less than doubles in stimulation 5 Most common, does not include all possible causes 6 Usually because of very large tumor (macroadenoma) 7 Includes Addison's disease Treatment [ edit ] ;Adrenal crisis Intravenous fluids [4] Intravenous steroid ( Solu-Cortef /injectable hydrocortisone) later hydrocortisone, prednisone or methylpredisolone tablets [4] Rest ;Cortisol deficiency (primary and secondary) Hydrocortisone (Cortef) Prednisone (Deltasone) Prednisolone (Delta-Cortef) Methylprednisolone (Medrol) Dexamethasone (Decadron) Hydrocortisone granules in casules for opening (Alkindi) [25] ;Mineralocorticoid deficiency (low aldosterone) Fludrocortisone acetate (To balance sodium, potassium and increase water retention) [4] See also [ edit ] Addison's disease – primary adrenocortical insufficiency Cushing's syndrome – overproduction of cortisol Insulin tolerance test – another test used to identify sub-types of adrenal insufficiency Adrenal fatigue (hypoadrenia) – a term used in alternative medicine to describe a believed exhaustion of the adrenal glands References [ edit ] ^ a b Eileen K. ... External links [ edit ] Classification D ICD - 10 : E27.1 - E27.4 ICD - 9-CM : 255.4 MeSH : D000309 External resources eMedicine : emerg/16 v t e Hypothalamic disease Gonadotropin Kallmann syndrome Adiposogenital dystrophy CRH Tertiary adrenal insufficiency Vasopressin Neurogenic diabetes insipidus General Hypothalamic hamartoma v t e Shock Distributive Septic shock Neurogenic shock Anaphylactic shock Toxic shock syndrome Obstructive Abdominal compartment syndrome Low volume Hemorrhage Hypovolemia Osmotic shock Other Spinal shock Cryptic shock Vasodilatory shockNR5A1, CYP11A1, SGPL1, ABCD1, NR0B1, POMC, BAX, BCL2, PLA2G2A, AAAS, MCM4, SAMD9, SRY, PROP1, GK, DMRT3, NPAP1, PEX6, SNORD115-1, ZFPM2, MKRN3-AS1, PWRN1, SAA1, PEX5, NDN, SNRPN, SOX9, VAMP7, HERC2, WT1, MKRN3, GMPPA, SNORD116-1, MAP3K1, IPW, RBM28, PWAR1, HBB, MAGEL2, WWOX, LHX4, STEAP3, GATA4, LIPA, WAC, TRAPPC11, STAR, SF1, TBX19, CYP17A1, REN, CYP2B6, MC2R, CLOCK, CITED2, SLC30A10, CREB3, SLC30A8, EIF2B2, CHD7, NNT, AANAT, PER3, WEE1, ALB, AVP, SERPINA6, CORT, CREB1, CRH, CSNK1A1, CYP11B1, CYP21A2, GH1, NR3C1, HLA-DOA, IGF1, CXCL8, MAT2A, NFKB2, PBX1, PIN1, PRF1, PRKAR1A, PRKAR2A, PRKCB, MAPK1, TLR3, TPO, PTH
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Primary Hypomagnesemia With Secondary Hypocalcemia
Gard
Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. ... Abnormal heart rhythm ( cardiac arrhythmia ) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods ( hypocalcemia ).
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Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Omim
Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. ... Olfactometry showed hyposmia, and MRI revealed bilateral hypoplasia of the olfactory bulbs, with normal hypothalamus and pituitary. He had very low serum levels of testosterone, LH (152780), and FSH (136530), and the 2 gonadotropins responded only weakly to GnRH challenge. His sister presented at 18 years of age for primary amenorrhea and pubertal failure (Tanner breast stage I). She had very low serum levels of estradiol, LH, and FSH, and was anosmic. ... Reexamination 6 months after stopping testosterone replacement therapy at 54 years of age showed persistence of his congenital gonadotropin deficiency, with low testicular volume and low gonadotropin and testosterone levels. ... INHERITANCE - Autosomal dominant (see MISCELLANEOUS below) HEAD & NECK Nose - Hyposmia/anosmia CHEST Breasts - Delayed or absent thelarche GENITOURINARY - Delayed or absent puberty External Genitalia (Male) - Micropenis Internal Genitalia (Male) - Small testes - Cryptorchidism - Azoospermia Internal Genitalia (Female) - Primary amenorrhea NEUROLOGIC Central Nervous System - Hyposmia/anosmia ENDOCRINE FEATURES - Delayed or absent puberty - Low serum testosterone in males - Low serum estradiol in females - Low to normal serum LH Low to normal serum FSH MISCELLANEOUS - Patients have normal pituitary function - Phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene MOLECULAR BASIS - Susceptibility conferred by mutation in the semaphorin 3A gene (SEMA3A, 603961.0001 ) ▲ CloseWDR11, PROKR2, ANOS1, CHD7, FGFR1, PROK2, FGF8, SOX10, KISS1R, TACR3, SEMA3A, NSMF, CCDC141, FEZF1, HESX1, FLRT3, SOX3, OTX2, SOX2, ARNT2, DCC, DUSP6, HS6ST1, SPRY4, IL17RD, FGF17, GNRHR, GNRH1, KISS1, GHRH, CSHL1, NR5A1, SERPINA4, STS, NR0B1, PRKAR2A, FN1, SSTR4, SEMA7A, BRD2, ADRA2B, ADRA1A, TUBB3, PLXNA1, BRS3, EDNRA, GPR42, IHH, ACKR3, CXCR6, LPAR2, NTN1, NRP1, SEMA3E, EBF2, RMST, TSHZ1, PALM2AKAP2, LINC01672, PROP1, NRP2, SCEL, AMH, ANK1, AXL, CD44, CD55, EMX1, EMX2, FGF1, GLI3, ANOS2P, LEP, LEPR, NDN, NT5E, NTRK1, PAX2, PCSK1, POMC, PRL, RMRP, ROBO1, SHOX, SIX3, RN7SL263P
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Metastatic Calcification
Wikipedia
ISBN 978-1455726134 . v t e Electrolyte imbalances Sodium High Salt poisoning Low Hypotonic Isotonic Cerebral salt-wasting syndrome Potassium High Low Chloride High Low Calcium High Low Symptoms and signs Chvostek sign Trousseau sign Milk-alkali syndrome Disorders of calcium metabolism Calcinosis ( Calciphylaxis , Calcinosis cutis ) Calcification ( Metastatic calcification , Dystrophic calcification ) Familial hypocalciuric hypercalcemia Phosphate High Low Magnesium High Low This article related to pathology is a stub .
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Growth Restriction, Severe, With Distinctive Facies
Omim
Clinical Features Begemann et al. (2015) reported a 4-generation family in which 4 affected individuals had severe prenatal and postnatal growth restriction and a distinctive triangular face with prominent forehead and low-set ears. The proband was a 26-year-old man born with hypotrophy and relative macrocephaly, who also exhibited right ulnar ray defect (missing digits 3-5) and contracture of the right elbow with pterygium. ... Their 20-year-old male cousin was also born by cesarean section due to poor fetal growth, and had ambiguous genitalia with penoscrotal hypospadias and unilateral cryptorchidism. The proband and his sister had low to low-normal intelligence and attended special schools, whereas their cousin had intelligence scores at or above the 50th percentile and attended high school. ... INHERITANCE - Autosomal dominant (from paternal allele) GROWTH Height - Short stature Weight - Low weight Other - Severe prenatal and postnatal growth restriction HEAD & NECK Head - Relative macrocephaly - Late closure of fontanel Face - Triangular face - Prominent forehead - Micrognathia or retrognathia Ears - Low-set ears - Bilateral preauricular fistulas CARDIOVASCULAR Heart - Persistent ductus arteriosus (in some patients) - Ventricular septal defect, small (in some patients) ABDOMEN Gastrointestinal - Feeding difficulties in infancy GENITOURINARY External Genitalia (Male) - Ambiguous genitalia (in some patients) - Hypospadias (in some patients) Internal Genitalia (Male) - Cryptorchidism (in some patients) SKELETAL - Delayed bone age Skull - Late closure of fontanel Limbs - Contracture with pterygium at elbow (rare) Hands - Fifth-finger clinodactyly - Absent 3rd through 5th digits (rare) Feet - Syndactyly of 2nd-3rd toes SKIN, NAILS, & HAIR Skin - Pigmented nevi NEUROLOGIC Central Nervous System - Hypotonia - Delayed motor development - Low to low-normal intelligence (in some patients) VOICE - High-pitched voice in childhood ENDOCRINE FEATURES - Normal or slightly elevated growth hormone levels - Some response to exogenous growth hormone - Low serum IGF2 levels - Normal serum IGF1 levels - Normal serum IGFBP3 levels PRENATAL MANIFESTATIONS Amniotic Fluid - Oligohydramnion (in some patients) MISCELLANEOUS - Clinical features present only if mutation inherited on paternal allele - Based on report of 4 patients from 1 family (last curated July 2015) MOLECULAR BASIS - Caused by mutation in the insulin-like growth factor-II gene (IGF2, 147470.0004 ) ▲ CloseIGF2, H19, HMGA2, CDKN1C, PLAG1, IGFBP3, CSH1, IGFBP1, FOXP2, GH2, RIT1, RAF1, PTPN11, ATR, LZTR1, KRAS, SOS1, CEP63, CENPJ, UROD, GRB10, BSCL2, H19-ICR, INS-IGF2, RSS, SMS, TGM1, MEST, WDR20, IGF1, IGF1R, GH1, KCNQ1OT1, WASHC5, KCNQ1, PLAGL1, CTCF, PCNA, ZFP57, TSPO, EGFR, CPA4, SPG38, SGCE, IGF2-AS, ZACN, MBD3, COPG2IT1, PHLDA2, HSP90B2P, TLR3, AIFM1, MAD2L1BP, COPG2, PEG10, MEG3, NSD1, CTCFL, OBSL1, HSPB8, OSBPL5, KCNIP1, CCDC22, KIF1B, AIF1, SRF, FGFR3, GHR, GFAP, GDNF, GCSH, GART, GARS1, FOLR1, EGF, GNAS, RCAN1, DES, DDC, COL1A1, CHRM3, BAAT, ANXA1, GLDC, GPI, SPAST, PGR, RASGRF1, PTCH1, AMT, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PDGFRB, NR3C1, NFE2L2, NEUROD1, KPNA2, KCNE1, HSPB1, HOXA4, HIC1, LOC105274310
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Sweeney-Cox Syndrome
Omim
Description Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). ... Examination revealed severe facial dysmorphism involving marked hypertelorism, prominent metopic ridge, upper eyelid colobomas, deficient bony orbits with pseudoproptosis, hypoplastic alae nasi with short columella and philtrum, high-arched palate, mild micrognathia, and small low-set dysplastic cupped ears with overfolded helices and upturned lobes. ... Other features included broad neck and narrow shoulders, long fingers with fixed flexion of distal phalanges and bilateral 2/3/4 syndactyly, bilateral talipes equinovarus, bilateral undescended testes, imperforate anus, and generalized hirsutism with low hairline. He underwent surgery at age 2 years for noncleft velopharyngeal insufficiency. ... Her nasal bridge was wide, with broad tip and low columella, and she had midline cleft palate and choanal atresia requiring tracheostomy from birth. Her pinnae were small, low-set, fleshy, and crumpled, and fingers were in a flexed position with 2 through 5 cutaneous syndactyly.
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Hypoparathyroidism
Wikipedia
Hypoparathyroidism Specialty Endocrinology Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone . This can lead to low levels of calcium in the blood , often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. ... Contents 1 Signs and symptoms 1.1 Related conditions 2 Causes 3 Mechanism 4 Diagnosis 5 Treatment 6 See also 7 References 8 External links Signs and symptoms [ edit ] The main symptoms of hypoparathyroidism are the result of the low blood calcium level , which interferes with normal muscle contraction and nerve conduction . As a result, people with hypoparathyroidism can experience paresthesia , an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as " tetany " that affect the hands and feet. [2] Many also report a number of subjective symptoms such as fatigue , headaches , bone pain and insomnia . [1] Crampy abdominal pain may occur. [3] Physical examination of someone with hypocalcemia may show tetany, but it is also possible to provoke tetany of the facial muscles by tapping on the facial nerve (a phenomenon known as Chvostek's sign ) or by using the cuff of a sphygmomanometer to temporarily obstruct the blood flow to the arm (a phenomenon known as Trousseau's sign of latent tetany ). [3] A number of medical emergencies can arise in people with low calcium levels. These are seizures , severe irregularities in the normal heart beat , as well as spasm of the upper part of the airways or the smaller airways known as the bronchi (both potentially causing respiratory failure ). [1] Related conditions [ edit ] Condition Appearance PTH levels Calcitriol Calcium Phosphates Imprinting Hypoparathyroidism Normal Low Low Low High Not applicable Pseudohypoparathyroidism Type 1A Skeletal defects High Low Low High Gene defect from mother ( GNAS1 ) Type 1B Normal High Low Low High Gene defect from mother ( GNAS1 and STX16 ) Type 2 Normal High Low Low High ? ... In the event of a life-threatening attack of low calcium levels or tetany (prolonged muscle contractions), calcium is administered by intravenous (IV) infusion. ... Nov.2011. ^ "FDA approves Natpara to control low blood calcium levels in patients with hypoparathyroidism" . fda.gov/ .CASR, GCM2, PTH, GATA3, AIRE, TBX1, PTH1R, FAM111A, HADHB, TRNW, COX2, TBX2, COX1, LIG4, ND1, NKX2-1, COX3, TRNF, ND4, ND5, ND6, TRNH, TRNL1, TRNQ, TRNS1, TRNS2, HBB, HIRA, HADHA, COMT, JMJD1C, ABCC6, PTRH1, ARVCF, ATP7B, NSUN2, COL4A5, RREB1, IRX5, SEC24C, UFD1, GP1BB, SOX3, QRSL1, FGF23, PTHLH, TRIM13, NR1I3, NUDT11, TBCE, VDR, SPG7, PHPT1, CXADRP1, CXADR, PRKAR1A, ARR3, HPT, ASAH1, SEA, ACKR3, AP2S1, CALCA, BRS3, CHD7, CORO7, STS, CLDN14, POF1B, NLRP5, TRPM6, HT, ADRA2B, PTPN22, CTLA4, CXCR6, FMR1, SSTR4, ADRA1A, HSP90AA1, TCF21, GPR42, GNA11, ST8SIA4, PTMS, FHL1, LPAR2, EDNRA, DIAPH2, DGCR, DGCR2, ADH1A
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Acrocephalopolysyndactyly Type Iii
Omim
All cranial sutures were fused. The ears were dysplastic and low-set. Maxillary hypoplasia, dental crowding, prognathism and short neck with low hairline were features. ... Eyes - Shallow orbits - Hypertelorism Facies - Flat facies - Small facies - Prognathism - Maxillary hypoplasia Skull - Craniosynostosis - Acrocephaly Teeth - Dental crowding Neck - Short neck with low hairline Inheritance - Autosomal dominant Limbs - Preaxial polydactyly - Syndactyly - Broad thumbs and broad great toes - Hypoplastic legs Ears - Dysplastic ears - Low-set ears ▲ Close
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Diabetic Hypoglycemia
Mayo_clinic
If you have type 1 or type 2 diabetes and need insulin to control your blood sugar, taking more insulin than you need can cause your blood sugar level to drop too low and result in hypoglycemia. Your blood sugar can also drop too low if, after taking your diabetes medication, you eat less than usual, or if you exercise more than you typically do, which uses extra glucose. ... Treatment If you think your blood sugar may be dipping too low, check your blood sugar level with a blood glucose meter. If you have symptoms of low blood sugar but can't check your blood sugar level right away, assume your blood sugar is low and treat for hypoglycemia. ... Preparing for your appointment If you have low blood sugar levels several times a week, make an appointment with your health care provider. ... How do diet, exercise and weight changes affect my blood sugar? How can I prevent low blood sugar? Do I need to worry about high blood sugar?
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Hepatic Lipase Deficiency
Omim
Description Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991). ... Both had an unusually large proportion of plasma triglyceride in low density and high density lipoproteins. ... INHERITANCE - Autosomal recessive CARDIOVASCULAR Heart - Angina pectoris SKIN, NAILS, & HAIR Skin - Eruptive xanthomas - Palmar xanthomas LABORATORY ABNORMALITIES - Hepatic lipase deficiency - Abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins MOLECULAR BASIS - Caused by mutation in the hepatic lipase gene (LIPC, 151670.0001 ) ▲ Close
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Deafness, Autosomal Dominant 6
Omim
Description Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. ... Clinical Features The Vanderbilt University Hereditary Deafness Study Group (1968) described low frequency deafness of sensorineural type in a large kindred. ... The hearing loss was bilateral, symmetric, and affected low and mid frequencies (up to 2,000 Hz). ... All of the mutation-positive patients had dominantly inherited low frequency sensorineural hearing loss. ... INHERITANCE - Autosomal dominant HEAD & NECK Ears - Progressive, low frequency sensorineural hearing loss MOLECULAR BASIS - Caused by mutation in the WFS1 gene ( 606201 ) ▲ Close
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Relative Energy Deficiency In Sport
Wikipedia
In the case of female athlete triad, low energy availability may be due to eating disorders, but not necessarily so. Athletes may experience low energy availability by exercising more without a concomitant change in eating habits, or they may increase their energy expenditure while also eating less. [4] Disordered eating is defined among this situation due to the low caloric intake or low energy availability. ... Psychological problems associated with eating disorders include low self-esteem, depression, and anxiety disorders. ... Consequences of hypoestrogenism seen in amenorrheic athletes include impaired endothelium-dependent arterial vasodilation, which reduces the perfusion of working muscle, impaired skeletal muscle oxidative metabolism, elevated low-density lipoprotein cholesterol levels, and vaginal dryness. [20] Due to low bone mineral density that declines as the number of missed menstrual cycles accumulates, and the loss of BMD may not be fully reversible. Stress fractures occur more commonly in physically active women with menstrual irregularities and/or low BMD with a relative risk for stress fracture two to four times greater in amenorrheic than eumenorrheic athletes.
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Hadziselimovic Syndrome
Omim
Dysmorphic facial features included prominent nasal bridge, hypotelorism, epicanthic folds, convergent strabismus, carp-shaped mouth, and low-set ears. There was asymmetric shortening of either the radius or the tibia/fibula, shortening of the first metacarpals, hypoplastic thumbs, and dorsally flexed fingers and toes, all of which were unusually long. ... Other features included hypotonia, low anterior hairline, hypotelorism, flat nasal bridge, thick lips with carp-shaped mouth, low-set dysmorphic ears, and hypoplastic first fingers. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Weight - Low weight Other - Failure to thrive HEAD & NECK Head - Microcephaly Ears - Low-set ears - Posteriorly rotated ears Eyes - Strabismus - Ptosis - Hypotelorism - Epicanthal folds Nose - Prominent nasal bridge - Anteverted nares Mouth - Carp-shaped mouth - High-arched palate - Thick lips CARDIOVASCULAR Heart - Heart malformations - Ventricular septal defect - Atrial septal defect - Tetralogy of Fallot - Ventricular hypertrophy Vascular - Pulmonary artery atresia ABDOMEN Gastrointestinal - Imperforate anus (1 patient) GENITOURINARY Kidneys - Renal hypoplasia (1 patient) SKELETAL - Delayed bone age Limbs - Asymmetric shortening of long bones (radius, fibula, tibia) Hands - Long digits - Short first digits - Hypoplastic first metacarpals Feet - Long digits SKIN, NAILS, & HAIR Hair - Low anterior hairline NEUROLOGIC Central Nervous System - Delayed development - Mental retardation - No speech development - Hypotonia - Hypoplastic corpus callosum (1 patient) - Cerebellar hypoplasia (1 patient) VOICE - High-pitched voice MISCELLANEOUS - Mode of inheritance is unclear, X-linked recessive inheritance could not be ruled out - Five reported patients, all boys (as of July 2009) ▲ Close
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Pulmonary Neuroendocrine Tumor
Wikipedia
Pulmonary neuroendocrine tumors include a spectrum of tumors from the low-grade typical pulmonary carcinoid tumor and intermediate-grade atypical pulmonary carcinoid tumor to the high-grade pulmonary large cell neuroendocrine carcinoma (LCNEC) and pulmonary small cell carcinoma (SCLC), with significant clinical, epidemiologic and genetic differences. [1] Contents 1 Types 2 Risk factor 3 Genetics 4 Diagnosis 5 References Types [ edit ] Pulmonary neuroendocrine tumor are classified according to tumoral grade : Low grade pulmonary neuroendocrine tumor: Typical pulmonary carcinoid tumour (TC; low-grade); Intermediate-grade pulmonary neuroendocrine tumor: Atypical pulmonary carcinoid tumour (AC; intermediate-grade) High-grade pulmonary neuroendocrine tumor Small cell lung cancer (SCLC) Large cell neuroendocrine carcinoma (LCNEC of the lung) Low-grade nodular neuroendocrine proliferations ≥ 0.5 cm are classified as carcinoid tumors and smaller ones are called pulmonary tumorlets . ... Genetics [ edit ] Genetic changes are very high in SCLC and LCNEC, but usually low for TC, intermediate for AC. Diagnosis [ edit ] The diagnosis of SCLC, TC and AC can be made by light microscopy without the need for special tests in most cases, but for LCNEC it is required to demonstrate NE differentiation by immunohistochemistry or electron microscopy.