Presentation
Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). [malacards.org]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Entire Body System
- Cushingoid
Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). [malacards.org]
1 cushingoid cushingoid constitution, cushingoid кушингоидная конституция, кушингоид English-Russian dictionary of medicine 2 cushingoid Универсальный англо-русский словарь 3 cushingoid мед. сущ. кушингоид * * * кушингоид Англо-русский медицинский словарь [translate.academic.ru]
This endocrine abnormality comprised hyperadrenocorticism, cushingoid features, and diabetes mellitus in the first case, and premature adrenarche in the second case. [doi.org]
It comprises endocrine abnormality hyperadrenocorticism, cushingoid features, and diabetes mellitus. One other case has shown premature adrenarche. The pathogenesis and aetiology of the Patterson syndrome was unknown, 1981. Read more at Wikipedia.org [the-medical-dictionary.com]
- Asymptomatic
Over 2 assessed the league between plasma lycopene and intima- media thickness of the garden-variety carotid artery barricade (CCA-IMT) in an analysis of the Antioxidant Supplementation in the Atherosclerosis Debarment (ASAP) investigate in asymptomatic [nhha.org]
Clinical features are of asymptomatic ash-coloured (blue/brown-grey) macules, which slowly spread and leave long-lasting discoloration. In the early stages there may be a thin erythematous margin. [plasticsurgerykey.com]
ORPHANET UMLS OMIM More info about MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Low match INCONTINENTIA PIGMENTI; IP Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic [mendelian.co]
In the COG P9641 trial, asymptomatic low-risk patients with neuroblastoma with or without OMAS achieved 5-year OS ≥ 95% with surgery alone.43 In the same study, chemotherapy was reserved for cases that were inoperable, symptomatic, or with progressive [nn.neurology.org]
- Buffalo Hump
hump obesity, striations, adiposity, hypertension, diabetes, and osteoporosis, usually due to exogenous corticosteroids … Medical dictionary Cushing's syndrome — Classification and external resources ICD 10 E24 ICD 9 255.0 … Wikipedia Dexamethasone — [translate.academic.ru]
- Failure to Thrive in Infancy
[…] to thrive in infancy Congenital cataract X-linked dominant inheritance Abnormality of the dentition Behavioral abnormality Coarse facial features Broad forehead Everted lower lip vermilion Thick vermilion border Broad nasal tip Macroorchidism Short attention [mendelian.co]
Gastrointestinal
- Failure to Thrive
Prenatal growth, Failure to thrive, Emaciation, Delayed osseous maturation ... Insulin resistance ... [ibis-birthdefects.org]
Affected infants tend to have a low birth weight, may fail to gain weight or grow at the expected rate (failure to thrive), and may become abnormally thin (emaciated). They often lack muscle mass. [rarediseases.org]
[…] erythroderma Large gyri of cerebrum Chronic pancreatitis Trisomy 1q42 qter Broad-betalipoproteinemia diarrhea and failure to thrive Broad gyri of cerebrum Pearson syndrome Pearson's marrow-pancreas Trisomy 2 & 5 pseudomosaicism Brocq-Duhring disease [yumpu.com]
Przyrembel (1987) described a baby with CRAT deficiency in brain, heart, and kidney in association with poor respiration and failure to thrive. [findzebra.com]
- Pyrosis
Schoenlein-Henoch Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Py Pyaemia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyelonephritis Pyoderma gangrenosum Pyomyositis Pyridoxine deficit Pyrimidinemia familial Pyrophobia Pyropoikilocytosis Pyrosis [bionity.com]
Schoenlein-Henoch Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyoderma gangrenosum Pyomyositis Pyrexiophobia Pyridoxine deficit Pyrimidinemia familial Pyrophobia Pyropoikilocytosis Pyrosis [bioreference.net]
Schönlein–Henoch Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Py Pyaemia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyelonephritis Pyoderma gangrenosum Pyomyositis Pyridoxine deficit Pyrimidinemia familial Pyrophobia Pyropoikilocytosis Pyrosis [ipfs.io]
Pyrosis[?] Pyruvate carboxylase deficiency[?] Pyruvate decarboxylase deficiency[?] Pyruvate dehydrogenase deficiency[?] Pyruvate kinase deficiency, liver type[?] Pyruvate kinase deficiency, muscle type[?] Pyruvate kinase deficiency[?] [encyclopedia.kids.net.au]
Purpura, thrombotic thrombocytopenic Purpura Purtilo syndrome Py[edit] Pyaemia Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyelonephritis Pyoderma gangrenosum Pyomyositis Pyridoxine deficit Pyrimidinemia familial Pyrophobia Pyropoikilocytosis Pyrosis [sosu.us]
Liver, Gall & Pancreas
- Jaundice
[…] said that Trump's “strength and physical stamina are extraordinary” and his “laboratory test results are astonishingly excellent”, let's not consider any medical conditions that could cause orange skin such as bronze baby syndrome, hemochromatosis, jaundice [forbes.com]
Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. [findzebra.com]
[…] moniliasis - darkening of skin Hypohidrotic Ectodermal Dysplasia - dark-colored skin around eyes Hypomelanosis of Ito - hyperpigmented skin Immune Thrombocytopenic Purpura - purplish skin areas Incontinentia Pigmenti - hyperpigmentation Intestinal disorder Jaundice [eczema.medicclub.info]
Cardiovascular
- Hypertension
May have undiagnosed hypertension. [accessanesthesiology.mhmedical.com]
[…] due to infrahepatic block Portal hypertension Portal thrombosis Portal vein thrombosis Portuguese type amyloidosis Pos-Pox Positive rheumatoid factor polyarthritis Post Polio syndrome Post Traumatic Stress disorder (PTSD) Postaxial polydactyly mental [bionity.com]
Англо-русский медицинский словарь 4 cushingoid Англо-русский словарь по психоаналитике См. также в других словарях: cushingoid — Resembling the signs and symptoms of Cushing disease or syndrome : moon facies, buffalo hump obesity, striations, adiposity, hypertension [translate.academic.ru]
Secondary Pulmonary hypertension Pulmonary hypoplasia familial primary Pulmonary sequestration Pulmonary supravalvular stenosis Pulmonary surfactant protein B, deficiency of Pulmonary valve stenosis Pulmonary valves agenesis Pulmonary veins stenosis [bioreference.net]
Skin
- Skin Disease
Macroepiphyseal dysplasia, McAlister Coe type 0 *Bone Diseases, Developmental *Osteoporosis *Skin Diseases. [reference.md]
See Pediatric Crohn's disease Pediatric T-cell leukemia Pediatric thyroid cancer - See Thyroid cancer, childhood Pediatric ulcerative colitis pEDS - See Periodontal Ehlers-Danlos syndrome Peeling skin disease - See Peeling skin syndrome Peeling skin [herenciageneticayenfermedad.blogspot.com]
Ears
- Normal Hearing
Symptoms INHERITANCE: Isolated cases GROWTH: [Weight]; Normal birth weight HEAD AND NECK: [Ears]; Disproportionately large ears; Normal hearing; [Nose]; Disproportionately large nose SKELETAL: Marked delay in bone age; Joint swelling (wrist, elbow, knees [findzebra.com]
Musculoskeletal
- Large Hand
[…] and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. [malacards.org]
Symptoms - Patterson pseudoleprechaunism syndrome * Large hands * Large feet * Large nose * Large ears * Loose skin * Bronze skin pigmentation * Thick hair * Mental retardation * Seizures * Skeletal disorders * Joint disorders * Cushingoid features * [checkorphan.org]
- Osteoporosis
[…] словарь 4 cushingoid Англо-русский словарь по психоаналитике См. также в других словарях: cushingoid — Resembling the signs and symptoms of Cushing disease or syndrome : moon facies, buffalo hump obesity, striations, adiposity, hypertension, diabetes, and osteoporosis [translate.academic.ru]
Congenital Cutis Laxa and Osteoporosis. Am J Dis Child. 1983;137(5):452–454. doi:10.1001/archpedi.1983.02140310034008 Download citation file: © 2019 New! JAMA Network Open is now accepting submissions. Learn more. [jamanetwork.com]
Macroepiphyseal dysplasia, McAlister Coe type 0 *Bone Diseases, Developmental *Osteoporosis *Skin Diseases. [reference.md]
Most patients with rheumatoid arthritis is an inflammatory arthritis, Fibromyalgia Osteoporosis RHEUMATOLOGIC (ARTHRITIS. PATTERSON PSEUDOLEPRECHAUNISM SYNDROME. JUVENILE IDIOPATHIC ARTHRITIS. [compactmodelling.eu]
- Large Feet
Symptoms - Patterson pseudoleprechaunism syndrome * Large hands * Large feet * Large nose * Large ears * Loose skin * Bronze skin pigmentation * Thick hair * Mental retardation * Seizures * Skeletal disorders * Joint disorders * Cushingoid features * [checkorphan.org]
[…] hands; [Feet]; Disproportionately large feet; Ankle valgus deformity SKIN, NAILS, HAIR: [Skin]; Generalized bronze hyperpigmentation (present at birth); Cutis laxa, hands and feet (present at birth); [Hair]; Hirsutism (especially on limbs) NEUROLOGIC [findzebra.com]
- Small Hand
hand Waddling gait Inability to walk Narrow palate Hand tremor Agitation Kinetic tremor Anxiety Flat face Psychosis Open mouth Drooling Schizophrenia Delayed gross motor development Sloping forehead Tetraparesis Postnatal growth retardation Congenital [mendelian.co]
Commonly associated characteristics of this disorder include diminished fetal activity, obesity, hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. [1] In 1887, Langdon Down described [emedicine.medscape.com]
Face, Head & Neck
- Bulbous Nose
Individual patients had strabismus, hypo- or hypertelorism, bulbous nose, micrognathia, and low posterior hairline. One patient had large hands and feet, 2 had long fingers, and 1 had scoliosis. [findzebra.com]
Neurologic
- Global Developmental Delay
MICROHYDRANENCEPHALY; MHAC Is also known as hydranencephaly and microcephaly;mhac Related symptoms: Autosomal recessive inheritance Global developmental delay Short stature Microcephaly Motor delay SOURCES: UMLS OMIM ORPHANET MESH MONDO GARD More info [mendelian.co]
Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome Glutamyl Ribose-5-Phosphate Storage Disease Goldberg-Shprintzen syndrome Goldblatt Viljoen Syndrome Goldenhar syndrome + Goldstein Hutt Syndrome Gollop Coates Syndrome [rgd.mcw.edu]
- Delayed Speech and Language Development
speech and language development Aggressive behavior Hypotelorism Narrow forehead Poor speech Muscular hypotonia Rare Symptoms - Less than 30% cases Autism Autistic behavior Micropenis Microphthalmia Hypermetropia Scrotal hypoplasia Cryptorchidism Postnatal [mendelian.co]
Urogenital
- Microphallus
Astigmatism Coloboma Focal seizures with impairment of consciousness or awareness Long nose Oxycephaly External genital hypoplasia Poor eye contact Intention tremor Enlarged cisterna magna Midface retrusion Abnormality of the skeletal system Cerebellar cyst Microphallus [mendelian.co]
Treatment
treatments that haven’t received much study. [healthrising.org]
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Treatment : How to Treat "patterson pseudoleprechaunism syndrome"? There is still not a know treatment for the syndrome. [signssymptoms.org]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Prognosis
Prognosis - Patterson pseudoleprechaunism syndrome Not supplied. Treatment - Patterson pseudoleprechaunism syndrome Not supplied. Resources - Patterson pseudoleprechaunism syndrome Not supplied. [checkorphan.org]
The prognosis is good however since it is thought to be a premalignant condition and regular surveillance with annual endoscopy should be done. [elsevier.es]
Prognosis Prognosis of the Plummer-Vinson syndrome is excellent. As described above, dysphagia and anemia can be treated effectively. [ncbi.nlm.nih.gov]
Prognosis and prevention[3, 12] Correction of iron deficiency will correct the condition if malignancy has not yet occurred. Prevention of iron deficiency prevents the disease. Historical notes[2] Henry Plummer (1874-1937) was an American internist. [patient.info]
A handful of cases have been reported in children. [19] Prognosis Prognosis is generally good, unless PVS is complicated by hypopharyngeal or esophageal carcinoma. [20, 21] Patients with PVS usually respond well to iron therapy, diet modification, and [emedicine.medscape.com]
Etiology
The pathogenesis and etiology of the Patterson syndrome was unknown until 1981. ۩articles [882m.com]
There is no insight as to the genetics or other etiology of this disorder. Clinical aspects Children are usually of normal birth weight. They may have generalized skeletal abnormalities, hyperadrenocorticism, and diabetes mellitus. [accessanesthesiology.mhmedical.com]
Synonyms pseudoleprechaunism syndrome, patterson type Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]
The pathogenesis and etiology of the Patterson syndrome was unknown as of 1981. References Journal of Medical Genetics, 1981, Vol 18, 294-298 PMID 7277424 Patterson, J. H.; Watkins, W. L., "Leprechaunism in a male infant." J. [wikidoc.org]
Epidemiology
Epidemiology PVS most often affects middle-aged women (this may be related to a propensity for iron deficiency), although it can occasionally present in a child[3]. [patient.info]
Epidemiology of the Paterson-Kelly syndrome. Lancet. 1964 Oct 3. 2(7362):716-20. [QxMD MEDLINE Link]. Geerlings SE, Statius van Eps LW. Pathogenesis and consequences of Plummer-Vinson syndrome. Clin Investig. 1992 Aug. 70(8):629-30. [emedicine.medscape.com]
Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. [ncbi.nlm.nih.gov]
The authors contend that epidemiologic studies acquire pointed to an inverse relationship between the extent of fruits and vegetables consumed and statistics hither disease and deaths. [nhha.org]
Pathophysiology
Union of Pathophysiology, Faculty of Medicine, Medical University of Varna, Bulgaria. 2) Department of Physiotherapy and Rehabilitation, Pavel banya medical center ltd, Pavel banya, Bulgaria. [journal-imab-bg.org]
Pathophysiology[edit] The cause of the disease is the lack of a fully functional insulin receptor, which has a profound effect during fetal development and thereafter. [theinfolist.com]
Pathophysiology The cause of the disease is the lack of a fully functional insulin receptor, which has a profound effect during fetal development and thereafter. [ipfs.io]
Pathophysiology [ edit ] The cause of the disease is the lack of a fully functional insulin receptor, which has a profound effect during fetal development and thereafter. [en.wikipedia.org]
Prevention
This management strategy has successfully prevented four subsequent episodes of progression to Stevens-Johnson syndrome. Thus, Stevens-Johnson syndrome associated with herpes simplex virus may be prevented by early use of acyclovir and prednisone. [jamanetwork.com]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Prevention - Patterson pseudoleprechaunism syndrome Not supplied. Diagnosis - Patterson pseudoleprechaunism syndrome signs and symptoms of Patterson pseudoleprechaunism syndrome may vary on an individual basis for each patient. [checkorphan.org]
Prognosis and prevention[3, 12] Correction of iron deficiency will correct the condition if malignancy has not yet occurred. Prevention of iron deficiency prevents the disease. Historical notes[2] Henry Plummer (1874-1937) was an American internist. [patient.info]
A local parent-support group is a valuable resource for information on relationship and sexuality training, abuse prevention, estate planning and independent and group living. [aafp.org]