Presentation
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Disorder Synonym(s): Fitzsimmons-McLachlan-Gilbert syndrome Prevalence: <1 / 1 000 000 Inheritance: X-linked recessive Age of onset: Infancy ICD-10: G82.1 OMIM: 309560 UMLS: C2745996 MeSH: - GARD: 2344 MedDRA: - The documents contained in this web site are presented [orpha.net]
Hematological
- Hemophilia A
[…] hemangioma-thrombocytopenia, hemangiomas, hemangiopericytoma, hematopoietic, hematuria, hemeralopia, hemi, hemiconvulsion-hemiplegia-epilepsy, hemifacial, hemihypertrophy, hemimelia, hemimelica, hemiplegia, hemiplegic, hemivertebrae, hemochromatosis, hemoglobin, hemolytic, hemophilia [rapsodyonline.eurordis.org]
Hemochromatosis type 4 Hemoglobin C disease Hemoglobin E disease Hemoglobin SC disease Hemoglobinopathy Hemoglobinuria Hemolytic anemia lethal genital anomalies Hemolytic-uremic syndrome Hemophagocytic lymphohistiocytosis Hemophagocytic reticulosis Hemophilia [sosu.us]
Entire Body System
- Anemia
[…] type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia Fanconi syndrome,renal, with nephrocalcinosis and renal stones Fanconi's anemia Fara Chlupackova syndrome [academickids.com]
[…] type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia Fanconi syndrome Fanconi syndrome, renal, with nephrocalcinosis and renal stones Fanconi's anemia Fara [bionity.com]
[…] type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi–Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia Fanconi syndrome Fanconi syndrome, renal, with nephrocalcinosis and renal stones Fanconi anemia Fara–Chlupackova [ipfs.io]
Skin
- Hyperkeratosis
[…] paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. [bioportal.bioontology.org]
He also shows hyperkeratosis of his palms and soles and is less mentally retarded that his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. [pubmed.ncbi.nlm.nih.gov]
He also shows hyperkeratosis of his palms and soles and is less mentally retarded than his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. [onlinelibrary.wiley.com]
- Alopecia
alopecia areata + Alopecia Congenita Keratosis Palmoplantaris + Alopecia Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan alopecia universalis + Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia [rgd.mcw.edu]
Alopecia congenita keratosis palmoplantaris 0 *Alopecia/congenital *Keratoderma, Palmoplantar. Tyrosine transaminase deficiency 0 *Corneal Diseases *Keratoderma, Palmoplantar *Tyrosinemias. [reference.md]
Focal dystonia Focal facial dermal dysplasia Focal or multifocal malformations in neuronal migration Foix Chavany Marie syndrome Foix-Alajouanine syndrome Follicular atrophoderma-basal cell carcinoma Follicular Dendritic Cell Tumor Follicular hamartoma alopecia [academickids.com]
Focal dystonia Focal facial dermal dysplasia Focal or multifocal malformations in neuronal migration Foix-Chavany-Marie syndrome Foix-Alajouanine syndrome Follicular atrophoderma-basal cell carcinoma Follicular Dendritic Cell Tumor Follicular hamartoma alopecia [bionity.com]
- Keratosis
Keratosis palmoplantaris with esophageal cancer 0 *Esophageal Neoplasms *Keratoderma, Palmoplantar. Keratosis palmoplantaris striata 3 0 *Keratoderma, Palmoplantar. Keratosis palmoplantaris striata 1 0 *Keratoderma, Palmoplantar. [reference.md]
Gingival Keratosis Palmaris et Plantaris with Clinodactyly Keratosis Palmoplantaris Striata 1 Keratosis Palmoplantaris Striata 2 Keratosis Palmoplantaris Striata 3 mal de Meleda Naegeli-Franceschetti-Jadassohn syndrome nonepidermolytic palmoplantar keratoderma [rgd.mcw.edu]
Keratosis pilaris: Often described as “goose flesh,” keratosis pilaris is a harmless condition. It tends to develop on the upper arms, but may also appear on the legs and buttocks. [healthline.com]
MeSH synonym : keratodermas, palmoplantar; palmoplantar keratoderma; keratosis palmaris et plantaris; keratoses, palmoplantar; palmoplantar keratoses; palmoplantar keratosis; hyperkeratosis palmaris et plantaris; palmoplantar keratodermas; keratosis [chu-rouen.fr]
- Plantar Hyperkeratosis
[…] paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. [bioportal.bioontology.org]
He also shows hyperkeratosis of his palms and soles and is less mentally retarded that his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. [ncbi.nlm.nih.gov]
He also shows hyperkeratosis of his palms and soles and is less mentally retarded than his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. [onlinelibrary.wiley.com]
- Palmoplantar Keratosis
Keratosis palmoplantaris striata 3 0 *Keratoderma, Palmoplantar. Keratosis palmoplantaris striata 1 0 *Keratoderma, Palmoplantar. Keratosis palmoplantaris papulosa 0 *Keratoderma, Palmoplantar. [reference.md]
MeSH synonym : keratodermas, palmoplantar; palmoplantar keratoderma; keratosis palmaris et plantaris; keratoses, palmoplantar; palmoplantar keratoses; palmoplantar keratosis; hyperkeratosis palmaris et plantaris; palmoplantar keratodermas; keratosis [chu-rouen.fr]
[from SNOMEDCT_US] From HPO Palmoplantar keratosis MedGen UID: 44017 •Concept ID: C0022596 • Disease or Syndrome Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. [ncbi.nlm.nih.gov]
Neurologic
- Spastic Paraplegia
1 Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance. 56 23613454 2013 2 Four brothers with mental retardation, spastic paraplegia and palmoplantar [malacards.org]
Preferred Name Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Synonyms Fitzsimmons McLachlan Gilbert syndrome Definitions This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic [bioportal.bioontology.org]
Congenital paraplegia (disorder) Hereditary disorder of nervous system Hereditary disorder of the integument Hereditary palmoplantar keratoderma (disorder) Intellectual disability Spastic paraplegia X-linked hereditary disease Name: Spastic paraplegia [snomedbrowser.com]
Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]
- Akinesia
[…] syndrome Femur bifid with monodactylous ectrodactyly Femur fibula ulna syndrome Fenton Wilkinson Toselano syndrome Ferlini Ragno Calzolari syndrome Fernhoff Blackston Oakley syndrome Ferrocalcinosis cerebro vascular Fet Fetal acitretin syndrome Fetal akinesia [academickids.com]
[…] syndrome Femur bifid with monodactylous ectrodactyly Femur fibula ulna syndrome Fenton–Wilkinson–Toselano syndrome Ferlini–Ragno–Calzolari syndrome Fernhoff–Blackston–Oakley syndrome Ferrocalcinosis cerebro vascular Fet Fetal acitretin syndrome Fetal akinesia [ipfs.io]
[…] facial syndrome Femur bifid with monodactylous ectrodactyly Femur fibula ulna syndrome Fenton Wilkinson Toselano syndrome Ferlini Ragno Calzolari syndrome Fernhoff Blackston Oakley syndrome Ferrocalcinosis cerebro vascular Fetal acitretin syndrome Fetal akinesia [bioreference.net]
- Abnormal Gait
gait, and palmar and plantar hyperkeratosis. [bioportal.bioontology.org]
Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet and an abnormal gait. In addition, they show palmar and plantar hyperkeratosis. [ncbi.nlm.nih.gov]
Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes caws deformity of both feet and an abnormal gait. In addition, they show palmar and plantar hyperkeratosis. [onlinelibrary.wiley.com]
- Dysarthria
[…] that Fitzsimmons syndrome is a co-occurrence of multiple events. 61 Armour CM...Boycott KM 27133561 2016 4 Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. 61 Armour CM...Boycott KM 19760657 2009 5 Spastic paraplegia, dysarthria [malacards.org]
"Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?". [en.wikipedia.org]
Fitzsimmons-Guilbert syndrome 0 *Dysarthria *Spastic Paraplegia, Hereditary *Brachydactyly. [reference.md]
Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings. Bahemuka M, Brown JD. Dev Med Child Neurol. 1982 Aug;24(4):519-24. PMID: 7117711 Similar articles Select item 9107473 4. [ncbi.nlm.nih.gov]
[…] duane-radial, dubin-johnson, dubowitz, duct, ducts, ductus, due, dumoulin, dundar, dungan, dunnigan, duodenal, duplication, duplication, duplication, duplications, dupont, dupuytren, dural, during, dwarfism, dyad, dyggve-melchior-clausen, dykes-markes-harper, dysarthria [rapsodyonline.eurordis.org]
- Tremor
(in hands) Skin Nails Hair Skin: palmoplantar hyperkeratosis Clinical features from OMIM: 309560 UMLS symptoms related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis: tremor of hands Search GEO for disease gene expression [malacards.org]
Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. [orpha.net]
Tremor MedGen UID: 21635 •Concept ID: C0040822 • Sign or Symptom An unintentional, oscillating to-and-fro muscle movement about a joint axis. [ncbi.nlm.nih.gov]
[…] tract, trainer, trait, transaminase, transcobalamin, transfer, transferase, transfusion, transgrediens, transient, translocase, transpeptidase, transplant, transplantation, transport, transporter, transposition, transverse, trauma, traumatic, treatment, tremor [rapsodyonline.eurordis.org]
Workup
Shock Hypovolemic: Differential Diagnoses & Workup. Emergency Medicine. eMedicine.com. 2009. Benito B, Brugada J, Brugada R, Brugada P. Síndrome de Brugada. Rev Esp Cardiol. 2009; 62(11):1297-315. Runge MS. Netter's Cardiology, 2nd Ed. [monografias.com]
Treatment
Treatment CentersEdit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.fandom.com]
Skip to content Home About Us Team Log In News Videos Treatments Clinical Trials Access Programs Diseases Events Networks All News People Treatment Research Finance All Access Programs Main Menu Subscribe for Free Newsletter Email * Type * * Required [checkorphan.org]
However, a dermatologist may be able to suggest treatment options to improve the appearance of your skin. Follicular keratosis Scalpel surgery or laser treatment can remove these lesions, though treatment isn’t necessary. [healthline.com]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Repeat treatments may be necessary. Warts can be treated at home with nonprescription remedies. Self-treatment will take longer for the wart to go away compared to treatment in a medical setting. [drugs.com]
Prognosis
Prognosis - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Treatment - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Resources - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. [checkorphan.org]
Prognosis Most forms of hyperkeratosis are local skin problems that have a good prognosis. Actinic keratoses can develop into squamous cell skin cancer. External resources American Academy of Dermatology P.O. [drugs.com]
PMID: 35624059 Prognosis Dai L, Xu JJ, Zhou WJ, Lü AP, Ji G J Integr Med 2022 Nov;20(6):524-533. Epub 2022 Aug 13 doi: 10.1016/j.joim.2022.08.002. [ncbi.nlm.nih.gov]
It may be the most expedient crumble of matter from this review is the low-down that luminal A tumors have planned an excellent prognosis and surely low rates of adjoining recurrence after breast maintenance treatment. [nhha.org]
However, as highlighted previously in this statement, the prognosis of patients with CS who receive MCS remains guarded. [ahajournals.org]
Etiology
Background: The implications of different adiposity measures on cardiovascular disease etiology remain unclear. In this article… Abstract The inventory of the trichopterofaunas of all Rovno amber sites is provided for the first time. [semanticscholar.org]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
As the molecular mechanisms of synaptic transmission are highly conserved, we can exploit the rapid, cost-effective genetic system of Drosophila to gain insights into the etiology of human neurological diseases such as myasthenic syndromes, mood disorders [vetmedbiosci.colostate.edu]
Epidemiology
Google Scholar Shorvon SD: Epidemiology, classification, natural history, and genetics of epilepsy. Lancet. 1990, 336 (8707): 93-96. 10.1016/0140-6736(90)91603-8. [bmcpsychiatry.biomedcentral.com]
The epidemiological investigate also suggests that be indefensible is the potential source recompense the transmission of H 400 mg trental overnight delivery. pylori infection suggesting that invalid is inseparable of the vectors required looking for [nhha.org]
Epidemiological characteristics and diagnostic approach in patients admitted to the emergency room for transient loss of consciousness: Group for Syncope Study in the Emergency Room (GESINUR) study. Europace. 2010; 12:869–76. [monografias.com]
The epidemiology of H. pylori infection in children, in Europe and North America has changed in brand-new decades. [waittfoundation.org]
National epidemiologic study. Br J Psychiatry 1998; 172: 235–8. 6 Gaitatzis, A, Trimble, MR, Sander, JW. The psychiatric comorbidity of epilepsy. Acta Neurol Scand 2004; 110: 207–20. 7 Torta, R, Keller, R. [cambridge.org]
Pathophysiology
[ edit ] With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible. [en.wikipedia.org]
Again purchase 150mg bupropion amex, these antibodies are create in on the contrary a occasional patients order bupropion once a day, and as follows the pathophysiological affinity of these autoantibodies is disputable. [waittfoundation.org]
[…] hemorrhages may cause blurred vision and are controversial; however, most reports estimate pregnancy and late gestation are believed to frequently found on funduscopic examination, the their occurrence to be 1% to 6% in the general contribute, the exact pathophysiologic [biovica.com]
Improving our understanding of the basis to the relationship between psychosis and epilepsy is important as it may provide clues to the pathophysiology of psychosis generally [ 4, 20, 21 ]. [bmcpsychiatry.biomedcentral.com]
Anatomy, mechanics, and pathophysiology of the mitral annulus. Am Heart J 2012; 164(2):163–76. Traill TA. Valvular Heart Disease and Pregnancy. Cardiol Clin. 2012; 30:369–381. Mistry NF, Vesely MR. [monografias.com]
Prevention
Prevention - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Diagnosis - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Prognosis - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. [checkorphan.org]
There is now more emphasis on the preventative aspects of medicine and health education. [scribd.com]
Prevention Some forms of hyperkeratosis are very easy to prevent: Corns and calluses. Wear comfortable shoes. Plantar warts. Avoid going barefoot in gyms, locker rooms or pool areas. Chronic eczema. [drugs.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]