There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.com]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Women should discuss breast self-examination with their physicians. [nature.com]

Nonetheless, splenectomy is invasive, irreversible, associated with post-operative complications, and its outcome is currently unpredictable, leading some physicians and patients towards postponement and use of alternative approaches 18. [jordi.com.br]

Patellofemoral pain syndrome, Pearson syndrome, Peeling skin syndrome, Pelvic congestion syndrome, Pepper syndrome, Periodic fever syndrome, Perlman syndrome, Persistent müllerian duct syndrome, Peter Pan syndrome, Peutz-Jegher syndrome, Phantom limb syndrome, Physician [acronymattic.com]

stature Decreased body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality [rarediseases.info.nih.gov]

Diseases related with Short stature and Abnormality of skin pigmentation In the following list you will find some of the most common rare diseases related to Short stature and Abnormality of skin pigmentation that can help you solving undiagnosed cases [mendelian.co]

248770 : MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL 248810 : MARINESCO-SJOGREN-LIKE SYNDROME; MSLS 248910 : MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA 248950 : MCDONOUGH SYNDROME 249230 : MEGAEPIPHYSEAL DWARFISM [www5.geometry.net]

She had short stature, with well-developed shoulder muscles and very hard buttocks (Fig.Figure 1. Patient 1. Deep indurations on the thighs andbuttocks. Prominent lordosis. [documents.tips]

[…] occur because of the persistent itch * Ichthyoses vulgaris –Very common cause of dry skin –A genetic defect in skin barrier function, leading to a higher risk of atopic dermatitis –Patients often have hyperlinearity of their palmar skin and xerotic fish [checkorphan.org]

He awoke insisting he had been on a fishing expedition. The doctor said: 'When the patient wakes up, he will remember nothing. The story is one and the same each time - weakness, slow reactions, then fast asleep. [siberiantimes.com]

[…] syndrome, Fetal trimethadione syndrome, Fetal varicella syndrome, Fetal warfarin syndrome, FG syndrome, Fibromyalgia syndrome, Filippi syndrome, Finnish congenital nephrotic syndrome, First arch syndrome, First use syndrome, Fisch-Renwick syndrome, Fish [acronymattic.com]

congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic [mendelian.co]

CONGENITAL ANOMALIES, AND MENTAL RETARDATION 209800 : AUSTRALIA ANTIGEN 209850 : AUTISTIC DISORDER 209885 : BARBER-SAY SYNDROME 209970 : BEEMER LETHAL MALFORMATION SYNDROME 210000 : BEHR SYNDROME 210050 : BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA [www5.geometry.net]

SYNDROME 247420 : LUTHERAN NULL 247430 : LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF 247440 : LYMPHEDEMA, CONGENITAL RECESSIVE 247450 : LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN 247610 : LYMPHOID INTERSTITIAL PNEUMONIA; LIP 247630 : LYMPHOID [www5.geometry.net]

Symptoms - Hard skin syndrome Parana type * Stiff skin * Severe growth retardation * Respiratory insufficiency Causes - Hard skin syndrome Parana type * Dry skin is a very common problem –Low humidity and cold temperatures make winter xerosis and “winter [checkorphan.org]

Showing of 14 80%-99% of people have these symptoms Generalized hyperpigmentation 0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips [rarediseases.info.nih.gov]

They also show a typical facies, generalized joint contractures, enlarged fontanelles, clavicular dysplasia, respiratory insufficiency, and an enlarged placenta with a short umbilical cord. [cags.org.ae]

Respiratory insufficiency may lead to death. The disorder is probably distinguishable from the stiff-skin syndrome ( 184900 ) by the severe growth retardation, more malignant course, and probable mode of inheritance. [omim.org]

Br J Dermatol. 1992 Dec;127(6):630-4 Abstract quote Restrictive dermopathy is a rare, lethal genodermatosis, characterized by a thin, tightly adherent skin which causes a dysmorphic facies, arthrogryposis and respiratory insufficiency. [thedoctorsdoctor.com]

It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. [checkrare.com]

TO THRIVE, KYPHOSCOLIOSIS SYNDROME 212550 : CATARACT, MICROPHTHALMIA, AND NYSTAGMUS 212600 : CATARACT, NUCLEAR 212700 : CATARACT, NUCLEAR TOTAL 212710 : CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME 212720 : CATARACT-MENTAL RETARDATION-HYPOGONADISM 212750 [www5.geometry.net]

The International Society on Thrombosis and Hemostasis suggests that bleeding should be considered clinically significant when there are two or more distinct bleeding sites such as the skin, nose, gums, vagina, gastrointestinal tract, or genitourinary [jordi.com.br]

Calcineurin inhibitors can cause glomerular thrombosis and tubular injury. A long-term syndrome of calcineurin inhibitor–associated renal injury can affect both renal arterioles and tubules and can be accompanied by interstitial fibrosis. [nature.com]

[…] people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 5%-29% of people have these symptoms Generalized hirsutism Excessive hairiness over body 0002230 Hyperkeratosis [rarediseases.info.nih.gov]

Palmoplantar Hyperkeratosis Squamous Cell Carcinoma Skin Sex Reversal Databases Palpebral Databases Palpebral Coloboma Lipoma Syndrome Databases Pancreatic Beta Cell Agenesis Neonatal Diabetes Mellitus Databases Pancreatic Carcinoma Databases Pancytopenia [vadlo.com]

Histopathological features include hyperkeratosis, parakeratosis and abnormal keratohyaline granules. The dermoepidermal junction is flat with complete lack of rete ridges. [indianpediatrics.net]

[…] nevus Hypopigmented skin patches Autosomal dominant inheritance Thrombocytosis Macular degeneration Trophic changes related to pain Abnormality of the nail Fine hair Hypotrichosis Ectodermal dysplasia Retinal dystrophy Skeletal dysplasia Sparse hair Hyperkeratosis [mendelian.co]

FACIAL ANOMALIES 208081 : ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES 208085 : ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 208155 : ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE 208158 : ARTHROGRYPOSIS WITH HYPERKERATOSIS [www5.geometry.net]

Affiliated tissues include skin, and related phenotypes are generalized hyperpigmentation and restricted chest movement [malacards.org]

Showing of 14 80%-99% of people have these symptoms Generalized hyperpigmentation 0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips [rarediseases.info.nih.gov]

An autosomalrecessive type, also known as Parana syndrome, ischaracterized by diuse hardening of skin with jointcontractures, hypertrichosis, hyperpigmentation, and avariety of systemic problems. [myslide.es]

Details: Languages: eng Pagination: 215-6 Citation Subset: AIM; IM Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Abnormalities, Multiple / complications* Brazil Child Growth Disorders / complications Hirsutism [biomedsearch.com]

0007440 Restricted chest movement 0006596 30%-79% of people have these symptoms Respiratory insufficiency Respiratory impairment 0002093 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 5%-29% of people have these symptoms Generalized hirsutism [rarediseases.info.nih.gov]

The clinical distinction between hirsutism and hypertrichosis is that hirsutism involves hair growth in a secondary sexual characteristic pattern. [keratin.com]

[…] entire skin surface –Can present with severe pruritus without much evidence of a rash * Severe xerosis is common in the elderly, and can cause eczema craquelé –Patient\'s legs often have scale that resembles cracked porcelain –Secondary erythema and excoriations [checkorphan.org]

Severe genital GVHD may develop in 12% of women with or without associated systemic GVHD. 68, 69 Patients may present with excoriated or ulcerated mucosa, fissures, narrowing of introitus, or vaginal scarring and obliteration that may lead to hematocolpos [nature.com]

Symptoms - Hard skin syndrome Parana type * Stiff skin * Severe growth retardation * Respiratory insufficiency Causes - Hard skin syndrome Parana type * Dry skin is a very common problem –Low humidity and cold temperatures make winter xerosis and “winter [checkorphan.org]

She has dry skin, I had oily skin as an adolescent but is not as oily now. After I removed 3 of them I have had no problems, just a scab that has pretty much healed after a week. I did cleanse the area well prior to and after. [medhelp.org]

Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.Visit the Orphanet disease page for more resources. [malacards.org]

Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. Last updated: 10/9/2018 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Recommendations for the prevention and treatment of glucocorticoid-induced osteoporosis: 2001 update. American College of Rheumatology Ad Hoc Committee on Glucocorticoid-Induced Osteoporosis. Arthritis Rheum 2001; 44 : 1496–1503. 53. [nature.com]

CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS 204650 : AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, RECESSIVE 204690 : AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS 204730 : AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS [www5.geometry.net]

[…] body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology [rarediseases.info.nih.gov]

nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Abnormality of the skin 0000951 Autosomal recessive inheritance 0000007 [rarediseases.info.nih.gov]

Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. [mendelian.co]

face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short stature Decreased body height Small stature [ more ] 0004322 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 [rarediseases.info.nih.gov]

insufficiency, are commonly associated with xerosis and marked pruritus * Diabetes mellitus * Medications (e.g., niacinamide) * Atopic dermatitis Prevention - Hard skin syndrome Parana type Not supplied. [checkorphan.org]