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Fitzsimmons-McLachlan-Gilbert Syndrome

Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • ORPHA:2824 Synonym(s): Fitzsimmons-McLachlan-Gilbert syndrome Prevalence: 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]
Disability
  • (Mental Retardation) Fitzsimmons-Mclachlan-Gilbert Syndrome Intellectual Disability (Mental Retardation) Hypomentia X-Linked Mental Retardations Autosomal Dominant Mental Retardations Mental Retardation with Dysmorphic Features Mental Retardation with[wellnessadvocate.com]
  • MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis: 60 33 (show all 26) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability[malacards.org]
  • MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis: 60 33 (show all 27) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability[malacards.org]
  • Homepage Rare diseases Search Search for a rare disease Paraplegia-intellectual disability-hyperkeratosis syndrome Disease definition A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus[orpha.net]
  • Spastic diplegia infantile type 0 *Intellectual Disability *Spastic Paraplegia, Hereditary. Mental retardation spasticity ectrodactyly 0 *Intellectual Disability *Spastic Paraplegia, Hereditary *Limb Deformities, Congenital.[reference.md]
Arachnodactyly
  • Temple-Baraitser Syndrome Mental Retardation Nasal Papillomata Mental Retardation Arachnodactyly Hypotonia Telangiectasia Mental Retardation Short Broad Thumbs De Lange Syndrome Prader-Willi Syndrome WAGR Syndrome See Also Aging & Longevity Welltrients[wellnessadvocate.com]
  • Very frequent (99-80%) HP:0003189 7 malar prominence 60 33 hallmark (90%) Very frequent (99-80%) HP:0010620 8 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 9 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692 10 arachnodactyly[malacards.org]
  • […] hallmark (90%) Very frequent (99-80%) HP:0010620 7 abnormal fingernail morphology 33 hallmark (90%) HP:0001231 8 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 9 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692 10 arachnodactyly[malacards.org]
  • Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity? Farah S, Sabry MA, al-Shubaili AF, Anim JT, Hussain JM, Montaser MA, Sharfuddin KM.[ncbi.nlm.nih.gov]
  • […] retardation athetosis microphthalmia Mental retardation blepharophimosis obesity web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly[sosu.us]
Physician
  • Patients with these disorders may be referred to neurologists, rheumatologists, orthopaedic surgeons, paediatricians or to general physicians, and their investigation, utilising electromyography (EM G) and muscle biopsy, often requires the help of the[books.google.es]
Ptosis
  • […] frequent (33%) Frequent (79-30%) HP:0002209 13 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348 14 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340 15 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348 16 ptosis[malacards.org]
  • […] syndrome Mic Mich–Mick Michelin tire baby syndrome Michels Caskey syndrome Michels syndrome Mickleson syndrome Micr Mircre Micrencephaly corpus callosum agenesis Micrencephaly olivopontocerebellar hypoplasia Micro syndrome Microb Microbrachycephaly ptosis[sosu.us]
Hyperkeratosis
  • 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]
Plantar Hyperkeratosis
  • The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters are normal.[ncbi.nlm.nih.gov]
Sparse Hair
  • Hair Mental Retardation Seizures Moloney Syndrome Naegeli Syndrome Naxos Disease Nisch syndrome nonepidermolytic palmoplantar keratoderma Palmoplantar Hyperkeratosis and True Hermaphroditism Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of[rgd.mcw.edu]
  • hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy, autosomal dominant form Microcephaly with normal intelligence, immunodeficiency Microcephaly with spastic qriplegia Microcephaly, holoprosencephaly[sosu.us]
Palmoplantar 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]
  • .; 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]
Skin Thickening
  • This skin thickening is often part of the skin's normal protection against rubbing, pressure and other forms of local irritation. It causes calluses and corns on hands and feet. It can cause whitish areas inside the mouth.[drugs.com]
Muscle Spasticity
  • Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary.[reference.md]
High Foot Arch
  • foot arch * Abnormal walk * Thickened coarse skin on palms Causes - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied.[checkorphan.org]
Foot Deformity
  • deformity flat facies Hand–foot–uterus syndrome Hand wringing Rett syndrome Hand, foot and mouth disease Hand–Schüller–Christian disease Hanhart syndrome Harding ataxia Harlequin type ichthyosis Harpaxophobia Harrod–Doman–Keele syndrome Hartnup disease[sosu.us]
High Forehead
  • forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348 14 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340 15 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348 16 ptosis 60 33 occasional (7.5%) Occasional (29-5%)[malacards.org]
Spastic Paraplegia
  • Diseases related to Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Mental Retardation with Spastic Paraplegia and Palmoplantar[malacards.org]
  • Homepage Rare diseases Search Search for a rare disease Paraplegia-intellectual disability-hyperkeratosis syndrome Disease definition A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus[orpha.net]
  • 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]
Abnormal Gait
  • gait, and palmar and plantar hyperkeratosis.[orpha.net]
  • 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]
Hyperreflexia
  • 29-5%) HP:0000508 17 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639 18 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483 19 high palate 33 HP:0000218 20 spasticity 60 Very frequent (99-80%) 21 tremor 33 HP:0001337 22 hyperreflexia[malacards.org]
  • Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.[monarchinitiative.org]
  • Hyperreflexia suggests an upper motor neuron dysfunction. Hyperreflexia usually has a positive Babinkski's sign and spasticity. Usually develops over a period of days to weeks (as opposed to immediate presentation).[wikidoc.org]
  • […] due to 6-pyruvoyltetrahydrop Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemic embryopathy Hyperpipecolatemia Hyperprolactinemia Hyperprolinemia type II Hyperprolinemia Hyperreflexia[sosu.us]
Nystagmus
  • […] frequent (33%) Frequent (79-30%) HP:0000348 14 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340 15 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348 16 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508 17 nystagmus[malacards.org]
  • Nystagmus, central Nystagmus, peripheral Nystagmus with congenital zonular cataract[sosu.us]
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]
  • Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity? Farah S, Sabry MA, al-Shubaili AF, Anim JT, Hussain JM, Montaser MA, Sharfuddin KM.[ncbi.nlm.nih.gov]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Resources - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied.[checkorphan.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]

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]
  • 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]
  • Clinical course and prognosis of temporal lobe epilepsy. A survey of 666 patients . Brain 1971 ; 94 : 173–90. 49 Sachdev , P . Schizophrenia-like psychosis and epilepsy: the status of the association .[cambridge.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Behavioral, psychotic, and anxiety disorders in epilepsy: etiology, clinical features, and therapeutic implications . Epilepsia 1999 ; 40 ( suppl 10 ): S2 – 20 . 8 Slater , E , Beard , AW . The schizophrenia-like psychoses of epilepsy. i.[cambridge.org]

Epidemiology

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • [ edit ] With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.[en.wikipedia.org]
  • The role of white matter for the pathophysiology of schizophrenia . Int Rev Psychiatry 2007 ; 19 : 459–68. 47 Sundram , F , Campbell , LE , Azuma , R , Daly , E , Bloemen , OJN , Barker , GJ , et al.[cambridge.org]

Prevention

  • Prevention - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Diagnosis - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied. Prognosis - Fitzsimmons-McLachlan-Gilbert syndrome Not supplied.[checkorphan.org]
  • 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 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]

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