The patient had rigid fingers and bilateral clubfeet at birth. Deep-set eyes, a triangular face, and prominent ears were evident from an early age. At age 17, he had limited horizontal and vertical eye movements, a rigid back, stiff walk, anteverted hunched shoulders, and pectus excavatum. ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Face - Micrognathia - Facial asymmetry (mild) Eyes - Ptosis - Epicanthal folds - Ophthalmoplegia (in some patients) Mouth - Cleft palate - Submucous cleft - Bifid uvula - High-arched palate Neck - Short neck - Mild neck webbing CHEST External Features - Sloping shoulders - Pectus excavatum GENITOURINARY Internal Genitalia (Male) - Cryptorchidism SKELETAL Spine - Lumbar lordosis - Kyphoscoliosis - Thoracolumbar scoliosis Pelvis - Congenital hip dislocation - Limited hip abduction Limbs - Knee flexion contractures Hands - Short fingers - Camptodactyly of proximal interphalangeal joint - Ulnar deviation - Cutaneous syndactyly - Single transverse palmar creases - Absence of interphalangeal creases Feet - Talipes equinovarus - Camptodactyly - Overlapping toes SKIN, NAILS, & HAIR Skin - Single transverse palmar creases - Absence of interphalangeal creases MUSCLE, SOFT TISSUES - Decreased muscle mass (especially of limbs) NEUROLOGIC Central Nervous System - Chiari I malformation of the cerebellum (in some patients) - Intellectual disability, mild (in some patients) - Psychomotor delay, mild (in some patients) MOLECULAR BASIS - Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0001 ) ▲ Close

Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis . People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot , and an opening in the roof of the mouth (cleft palate). Their joints are often very stiff or unable to move. Intelligence is usually normal. The range and severity of symptoms may vary from person to person. Gordon syndrome is caused by genetic changes (mutations) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern. Gordon syndrome is diagnosed by clinical examination and genetic testing.

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

Specialty Dermatology Solar elastosis separates from the epidermis by a narrow band of normal-appearing collagen (grenz zone) with collagen fibers arranged horizontally. [1] Actinic elastosis , also known as solar elastosis , is an accumulation of abnormal elastin (elastic tissue) in the dermis of the skin , [2] or in the conjunctiva of the eye , [3] which occurs as a result of the cumulative effects of prolonged and excessive sun exposure, a process known as photoaging . ... ISBN 978-0-7020-3485-5 . ^ Klintworth, G; Cummings, T (2009-08-26). "24; The eye and ocular adnexa". In Stacey, Mills (ed.).

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.

A facial feature of metopic synostosis is hypotelorism ; in the frontal view, it can be seen that the width between the eyes is smaller than usual. [11] Plagiocephaly [ edit ] The Greek word πλάγιος plágios means "skew". ... Pfeiffer syndrome : abnormalities of the skull, hands, and feet wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose. ... Other symptoms can be difficulty in breathing, snoring, day-time sleepiness and perspiration. [5] The main causative agent of OSA is the [midface hypoplasia], which also poses a risk to the eyes that can be seen bulging out of the eye sockets. ... The third point of view is the frontal view. The points to look at are: eye position, eye symmetry and twisting of the nasal tip. ... For example, one can consider the number of closed sutures. If only one of the four sutures is prematurely closed (single suture craniosynostosis), the craniosynostosis is referred to as 'simple' (or 'isolated').

Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. ... Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.

Although the ALT level may be raised, 20% of women with ICP will always have a normal LFT test result. [18] This, plus pruritus of palms and soles, could be considered as potentially diagnostic of ICP but only with elevated bile acid levels (however LFTs are not always elevated in ICP patients). ... While there is no cure for ICP, and no way to guarantee a successful outcome, studies have shown a slightly better fetal and maternal outcome from administration of ursodeoxycholic acid, whereas cholestyramine appears to only relieve itching. [9] [20] There is no evidence that giving oral water-soluble Vitamin K may help to avoid the risk of hemorrhage at delivery. ... CS1 maint: multiple names: authors list ( link ) External links [ edit ] https://www.icpsupport.org/abouticp.shtml Classification D ICD - 10 : O26.6 ICD - 9-CM : 646.73 MeSH : C535932 DiseasesDB : 6884 E A Fagan "Intrahepatic cholestasis of pregnancy" v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum

Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice ).

Eye condition Eye strain Other names Asthenopia, aesthenopia Specialty Ophthalmology This article needs additional citations for verification . ... Unsourced material may be challenged and removed. Find sources: "Eye strain" – news · newspapers · books · scholar · JSTOR ( October 2020 ) ( Learn how and when to remove this template message ) Eye strain , also known as asthenopia (from Greek a-sthen-opia , Ancient Greek : ἀσθεν-ωπία , transl. weak-eye-condition ), is an eye condition that manifests through non-specific symptoms such as fatigue, pain in or around the eyes, blurred vision , headache , and occasional double vision . ... This causes discomfort, soreness or pain on the eyeballs. Closing the eyes for ten minutes and relaxing the muscles of the face and neck at least once an hour usually alleviates the problem. ... Contents 1 Symptoms 2 Therapy 3 See also 4 References 5 External links Symptoms [ edit ] Fatigue related eye strain [3] [4] : blurred vision difficulty in refocusing irritated or burning eyes dry eyes tired eyes sensitivity to bright lights eye discomfort headaches sore eyes Therapy [ edit ] Fatigue related eye strain Known methods of relieving strain of the ocular muscles are: taking periodic breaks by closing the eyes, [5] obtaining good sleep and proper nutrition. [6] See also [ edit ] Astigmatism Computer vision syndrome Eye examination Ocular neurosis Photophobia Vision therapy Visual looming syndrome References [ edit ] ^ FT, Vaz; SP, Henriques; DS, Silva; J, Roque; AS, Lopes; M, Mota (April 2019). ... Cite journal requires |journal= ( help ) ^ S, Lertwisuttipaiboon; T, Pumpaibool; KJ, Neeser; N, Kasetsuwan (May 2017). "Effectiveness of a participatory eye care program in reducing eye strain among staff computer users in Thailand" .

A review into using uterine monitoring at home to detect contractions and possible preterm births in women at higher risk of having a preterm baby found that it did not reduce the number of preterm births. [22] The research included in the review was poor quality but it showed that home monitoring may increase the number of unplanned antenatal visits and may reduce the number of babies admitted to special care when compared with women receiving normal antenatal care . [22] Complications [ edit ] Mortality and morbidity [ edit ] In the U.S. where many neonatal infections and other causes of neonatal death have been markedly reduced, prematurity is the leading cause of neonatal mortality at 25%. [23] Prematurely born infants are also at greater risk for having subsequent serious chronic health problems as discussed below. ... Even though these results look promising, the review was only based on one study so more research is needed into routine screening for low genital tract infections. [81] Also periodontal disease has been shown repeatedly to be linked to preterm birth. [82] [83] In contrast, viral infections, unless accompanied by a significant febrile response, are considered not to be a major factor in relation to preterm birth. [41] Genetics [ edit ] There is believed to be a maternal genetic component in preterm birth. [84] Estimated heritability of timing-of-birth in women was 34%. ... A positive test indicates an increased risk of preterm birth, and a negative test has a high predictive value. [41] It has been shown that only 1% of women in questionable cases of preterm labor delivered within the next week when the test was negative. [93] Ultrasound [ edit ] Further information: Cervical incompetence Obstetric ultrasound has become useful in the assessment of the cervix in women at risk for premature delivery. ... Trials using low-dose aspirin , fish oil , vitamin C and E, and calcium to reduce preeclampsia demonstrated some reduction in preterm birth only when low-dose aspirin was used. [96] Even if agents such as calcium or antioxidants were able to reduce preeclampsia, a resulting decrease in preterm birth was not observed. [96] Reducing spontaneous preterm birth [ edit ] Reduction in activity by the mother—pelvic rest, limited work, bed rest—may be recommended although there is no evidence it is useful with some concerns it is harmful. [114] Increasing medical care by more frequent visits and more education has not been shown to reduce preterm birth rates. [106] Use of nutritional supplements such as omega-3 polyunsaturated fatty acids is based on the observation that populations who have a high intake of such agents are at low risk for preterm birth, presumably as these agents inhibit production of proinflammatory cytokines. ... There is ongoing discussion about when steroids should be given (i.e. only antenatally or postnatally too) and for how long (i.e. single course or repeated administration).

A retrospective study showed that 16% of patients had a final visual acuity of 20/50 or better and 47% had hand motions to no light perception in the affected eye. Approximately 20% of eyes may require enucleation.

Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). ... Early signs and symptoms vary but may include vision loss, "crossed eyes" (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Over time, Coats disease may also lead to retinal detachment , glaucoma, and clouding of the lens of the eye (cataracts). In most cases, only one eye is affected.

Human eye disease causing full or partial blindness "Yellow eye" redirects here. ... Often the unaffected eye will compensate for the loss of vision in the other eye; however, this results in some loss of depth perception and parallax . ... One early warning sign of Coats' disease is yellow-eye in flash photography. Just as the red-eye effect is caused by a reflection off blood vessels in the back of a normal eye, an eye affected by Coats' will glow yellow in photographs as light reflects off cholesterol deposits. ... Only visible with a flash camera. Coats' disease itself is painless. ... Presentation [ edit ] Coats' usually affects only one eye (unilateral) and occurs predominantly in young males 1/100,000, with the onset of symptoms generally appearing in the first decade of life.