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Fitzsimmons-Guilbert Syndrome

Fitzsimmons Guilbert Syndrome


Presentation

  • The proximal extremities of the bones of the first row present oval, concave articular surfaces, the proximal extremity of each of the bones of the second and third rows presents a double concavity separated by a median ridge.[wikivisually.com]
  • The heights ofthe three previously reported patients were on the 3rdcentile, but ours present normal growth.[docslide.com.br]
  • Ataxia, dysmetria, and athetotic movements may be present. Motor and mental development are delayed as is expressive speech. Intellectual disability is present in all 4 patients.[disorders.eyes.arizona.edu]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome.[ncbi.nlm.nih.gov]
Physician
  • 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]
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • Radiographic studies (X-rays) can aid physicians differentiate between the different types of brachydactyly.[signssymptoms.org]
  • All we know about French physician Georges Louis Bardet is that he was born in 1885.[academic.oup.com]
Weakness
  • Potential Signs and Symptoms Symptoms of Fitzsimmons-Guilbert syndrome consist of short fingers and toes, foot and hand abnormalities, paraplegia, decreased intelligence, retarded growth, walking difficulty, muscle weakness, webbed fingers, short stature[besttreatmenthq.com]
  • Symptoms and Signs Symptoms of Fitzsimmons-Guilbert syndrome include short fingers and toes, foot and hand abnormalities, paraplegia, reduced intelligence, retarded growth, walking difficulty, muscle weakness, webbed fingers, short stature and protruding[medigest.uk]
  • Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.[nectarmutation.org]
  • Ambulation and gait difficulties combined with spasticity and lower limb weakness are common signs. Ataxia and dysarthria are also important signs. Some individuals have dementia while others have only mild cognitive impairment.[disorders.eyes.arizona.edu]
  • Other features often seen in most mitochondrial disorders like short stature, hearing loss, dementia, limb weakness, and diabetes mellitus may be seen.[entokey.com]
Broad Thumb
  • […] of Findings of Reported CasesFindingFitzsimmons &GuilbertTwin 1Fitzsimmons &GuilbertTwin 2 HennekamPresentreportPatient 1PresentreportPatient 2DDM/MR Spastic paraplegia Nonspecific dysarthria Nasal speech Cone-shaped epiphyses Brachydactyly (type E) Broad[docslide.com.br]
  • […] sun sensitivity Trichothiodystrophy Trichotillomania Tricuspid atresia Tricuspid dysplasia Tricyclic antidepressant overdose Trig–Trip[edit] Trigeminal neuralgia Trigger finger Trigonocephaly Trigonocephaly bifid nose acral anomalies Trigonocephaly broad[sosu.us]
  • thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Trismus-pseudocamptodactyly syndrome Trisomy Xq28 Tuberous sclerosis complex Turner[se-atlas.de]
  • thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain acyl-coenzyme A dehydrogenase deficiency Osteoglophonic dysplasia Neuropathy, hereditary motor and sensory, Okinawa[checkrare.com]
Broad Thumb
  • […] of Findings of Reported CasesFindingFitzsimmons &GuilbertTwin 1Fitzsimmons &GuilbertTwin 2 HennekamPresentreportPatient 1PresentreportPatient 2DDM/MR Spastic paraplegia Nonspecific dysarthria Nasal speech Cone-shaped epiphyses Brachydactyly (type E) Broad[docslide.com.br]
  • […] sun sensitivity Trichothiodystrophy Trichotillomania Tricuspid atresia Tricuspid dysplasia Tricyclic antidepressant overdose Trig–Trip[edit] Trigeminal neuralgia Trigger finger Trigonocephaly Trigonocephaly bifid nose acral anomalies Trigonocephaly broad[sosu.us]
  • thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Trismus-pseudocamptodactyly syndrome Trisomy Xq28 Tuberous sclerosis complex Turner[se-atlas.de]
  • thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain acyl-coenzyme A dehydrogenase deficiency Osteoglophonic dysplasia Neuropathy, hereditary motor and sensory, Okinawa[checkrare.com]
Multiple Congenital Anomalies
  • She, in turn, had adaughter with multiple congenital anomalies, includ-ing anophthalmia and cleft lip and palate, who died atage 14 of heart failure.[docslide.com.br]
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
  • congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic[sosu.us]
  • congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome Mosaic trisomy 22 Early Infantile Epileptic Encephalopathy[checkrare.com]
Choking
  • The patient has ahistory of choking and gagging on foods, ulcerative co-litis, Crohn disease, peptic ulcer disease, mild cardio-megaly, osteoporosis, brachydactyly, nonspecific dysar-thria, and seizures.[docslide.com.br]
Gagging
  • The patient has ahistory of choking and gagging on foods, ulcerative co-litis, Crohn disease, peptic ulcer disease, mild cardio-megaly, osteoporosis, brachydactyly, nonspecific dysar-thria, and seizures.[docslide.com.br]
Fecal Incontinence
  • ., emotional incontinence)and urinary and fecal incontinence which reflect fron-tal lobe impairment.Other conditions with spastic paraparesis [Lizcano-Gil et al., 1997] were ruled out, including the craniofa-cial conodysplasia syndrome [Beals et al.,1995[docslide.com.br]
Ulcer
  • The patient has ahistory of choking and gagging on foods, ulcerative co-litis, Crohn disease, peptic ulcer disease, mild cardio-megaly, osteoporosis, brachydactyly, nonspecific dysar-thria, and seizures.[docslide.com.br]
  • […] vessel lumina Frequency: up to 2% Age: usually in males in 4 th 5 th decades; Blacks (West Africa) their American descendants; M F • deep soft-tissue groove forming on medial aspect of plantar surface of proximal phalanx with edema distally • painful ulceration[radiologykey.com]
Muscle Weakness
  • Potential Signs and Symptoms Symptoms of Fitzsimmons-Guilbert syndrome consist of short fingers and toes, foot and hand abnormalities, paraplegia, decreased intelligence, retarded growth, walking difficulty, muscle weakness, webbed fingers, short stature[besttreatmenthq.com]
  • Symptoms and Signs Symptoms of Fitzsimmons-Guilbert syndrome include short fingers and toes, foot and hand abnormalities, paraplegia, reduced intelligence, retarded growth, walking difficulty, muscle weakness, webbed fingers, short stature and protruding[medigest.uk]
Hyperlaxity
  • […] syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity[se-atlas.de]
Flexion Contracture
  • Only the right hand was evaluated due to severe flexion contracture ofthe left hand.Fitzsimmons-Guilbert Syndrome 93[docslide.com.br]
Hand Deformity
  • deformity mandibulofacial dysostosis Split hand split foot malformation autosomal reces Split hand split foot mandibular hypoplasia Split hand split foot nystagmus Split hand split foot X linked Split hand urinary anomalies spina bifida Split-hand deformity[sosu.us]
Cleft Lip and-or Palate
  • lip palate psychomotor retardation Pillay syndrome Glucose-galactose malabsorption Spastic ataxia Charlevoix-Saguenay type Autosomal dominant palmoplantar keratoderma and congenital alopecia McKusick Kaufman syndrome Branchial arch syndrome X-linked[checkrare.com]
  • Anesthesia considerations include the presence of choanal atresia, cleft lip and palate, and possibility of tracheomalacia.[entokey.com]
Incontinence
  • The patient has beenunable to walk and wheelchair-bound for the last 25years, also becoming incontinent.[docslide.com.br]
  • In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.[nectarmutation.org]
Dysarthria
  • "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]
  • Spastic paraplegia, dysarthria, brachydactyly, andcone shaped epiphyses: confirmation of the Fitzsimmons syndrome.[docslide.com.br]
  • This also comes with cone-shaped epiphyses, sternal anomaly, rare metaphyseal-phalangeal pattern profile, mild intellectual deficit and dysarthria.[besttreatmenthq.com]
  • This also comes with cone-shaped epiphyses, sternal anomaly, abnormal metaphyseal-phalangeal pattern profile, mild intellectual deficit and dysarthria.[medigest.uk]
  • In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence.[ncbi.nlm.nih.gov]
Hyperreflexia
  • SPG2 is characterized by spastic gait and hyperreflexia.[nectarmutation.org]
  • Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. Brain MRIs show cerebellar hemispheric and vermian atrophy.[disorders.eyes.arizona.edu]
Babinski Sign
  • Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. Brain MRIs show cerebellar hemispheric and vermian atrophy.[disorders.eyes.arizona.edu]
Nasal Speech
  • E-mail: ylacassie@mail.peds.lsumc.eduReceived 5 January 1998; Accepted 11 January 1999American Journal of Medical Genetics 84:9093 (1999) 1999 Wiley-Liss, Inc.54), a strikingly dysarthric and nasal speech, and spas-tic paraplegia with flexion contracture[docslide.com.br]
Unable to Walk
  • Thepatient has been unable to walk and wheelchair-boundfor the last 25 years.[docslide.com.br]

Treatment

  • Possible healthcare treatment Options There are no available potential treatments to offer cure for this disorder primarily because of limited number of instances to study and scarce studies relating to the medical medical condition have been conducted[besttreatmenthq.com]
  • Treatment There are no available treatments to offer cure for this disorder mainly because of limited number of cases to study and scarce studies relating to the medical condition have been conducted.[medigest.uk]
  • You can help by adding to it. ( July 2017 ) Treatment [ edit ] This section is empty.[en.wikipedia.org]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]

Prognosis

  • The prognosis is generally good if the child survives infancy.[entokey.com]
  • SOFT-TISSUE ANGIOMATOSIS (60–70%) VISCERAL ANGIOMATOSIS • poor prognosis D.[radiologykey.com]

Etiology

  • No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified.[ncbi.nlm.nih.gov]
  • […] pathologic fracture ANEURYSMAL BONE CYST expansile pathologically benign lytic lesion of bone containing thin-walled cystic cavities filled with chronic blood products; name derived from roentgen appearance Incidence: 1.4–2.3% of primary bone tumors Etiology[radiologykey.com]
  • Limb malformations have been associated with some patients with SOD and support possible vascular disruption etiology [ 201 ].[entokey.com]

Epidemiology

  • Epidemiology The approximate incidence of this syndrome is 0.6–10 in 100,000.[entokey.com]
  • […] in the same family and accompanied by general imperfection of development, Ophthal Rev, 1886, vol. 2 (pg. 32 - 41 ) 4 Laurence–Moon Syndrome (OMIM 245800) National Institutes of Health Online Mendelian Inheritance in Man, 2009 5 Clinical and genetic epidemiology[academic.oup.com]
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]
  • […] increased bone density ARTHROGRYPOSIS ARTHROGRYPOSIS MULTIPLEX CONGENITA nonprogressive congenital syndromic complex characterized by poorly developed contracted muscles, deformed joints with thickened periarticular capsule and intact sensory system Pathophysiology[radiologykey.com]

Prevention

  • Renal function monitoring and prevention of development of rickets is essential.[entokey.com]

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