and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References GENERALIZED ANXIETY DISORDER Patients with GAD typically present with excessive anxiety about ordinary [aafp.org]

The mutation identified in the present case study lie next to the N-terminal transmembrane domain. [frontiersin.org]

A family history of multiple affected male patients in an X-linked pattern of segregation is present in 8 of the 10 families. [ncbi.nlm.nih.gov]

Kaveggia in 1974,[2] its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).[3] Presentation[edit] FG syndrome's [en.wikipedia.org]

• Multiple Congenital Anomalies

  This review should help redefine FG syndrome as a multiple congenital anomaly syndrome. [ncbi.nlm.nih.gov]

  Category Congenital malformation Brite Human diseases [BR:br08402] Congenital malformations Other congenital malformations H00894 FG syndrome Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies [genome.jp]

  FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-77. Risheg H, Graham JM, Clark RD, et al. [rarediseases.org]

  An X-linked recessive syndrome of multiple congenital anomalies and mental retardation". Z Kinderheilkd. 117 (1): 1–18. doi:10.1007/BF00439020. PMID 4365204. S2CID 25141237. ^ a b Thompson E, Baraitser M (1987). "FG syndrome". [en.wikipedia.org]

• Developmental Delay

  Blepharophimosis, short humeri, developmental delay and Hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 164A:1821-5. Lesca G, Moizard MP, Bussy G, et al. [rarediseases.org]

• Broad Thumb

  […] hallux Broad big toe Wide big toe [ more ] 0010055 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly Permanent flexion of the finger or toe 0012385 Choanal atresia Blockage of the rear opening of the nasal cavity Obstruction of [rarediseases.info.nih.gov]

  thumbs and halluces Congenital anomaly (corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior (affable and eager to please) Treatment[edit] Treatment for FG Syndrome is individualized to each person [en.wikipedia.org]

• Feeding Difficulties

  Showing of 75 | Medical Terms Other Names Learn More: HPO ID 1%-4% of people have these symptoms Feeding difficulties in infancy 0008872 Scoliosis 0002650 Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms [rarediseases.info.nih.gov]

  difficulties, and constipation (13 of 13). [ncbi.nlm.nih.gov]

• Pneumonia

  Causes of GBS-related death include acute respiratory distress syndrome (ARDS), sepsis, pneumonia, venous thromboembolic disease, and cardiac arrest. [emedicine.medscape.com]

  Fundoplication and gastrostomy were needed at 14 months for gastroesophageal reflux and aspiration pneumonia. Chronic constipation, noted in infancy, improved after he started walking and drinking more water. [ncbi.nlm.nih.gov]

• Constipation

  5: Name: Fg Syndrome 5 57 29 13 70 External Ids: Diseases related to Fg Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing: Clinical features from OMIM®: 300581 (Updated 05-Apr-2021) UMLS symptoms related to Fg Syndrome 5: constipation [malacards.org]

  The most common gastrointestinal problems include constipation from an imperforate anus and gastroesophageal reflux. Cardiopulmonary defects contribute to roughly 60% of premature deaths in infants with FG syndrome. [en.wikipedia.org]

• Frontal Upsweep of Hair

  Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 Gray matter heterotopia [rarediseases.info.nih.gov]

  A frontal upsweep of hair was reported in the mother in Family 1, and constipation was noted in the mother in Family 9. [ncbi.nlm.nih.gov]

• Macrocephaly

  Kaveggia in 1974,[2] its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).[3] Presentation[edit] FG syndrome's [en.wikipedia.org]

  Ten had macrocephaly (five absolute, five relative). [ncbi.nlm.nih.gov]

• Dolichocephaly

  […] might consider the following clinical features in an individual as indicative for further evaluation:[7] Neurodevelopmental delays A family history consistent with X-linked inheritance Characteristic facial features Absolute or relative macrocephaly Dolichocephaly [en.wikipedia.org]

• Long Narrow Face

  narrow face Broad thumbs and halluces Congenital anomaly (corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior (affable and eager to please) Treatment[edit] Treatment for FG Syndrome is individualized [en.wikipedia.org]

  tall forehead, frontal upsweep, long narrow face, puffy eyelids, open mouth 3. [ncbi.nlm.nih.gov]

• Narrow Face

  face Broad thumbs and halluces Congenital anomaly (corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior (affable and eager to please) Treatment[edit] Treatment for FG Syndrome is individualized [en.wikipedia.org]

  tall forehead, frontal upsweep, long narrow face, puffy eyelids, open mouth 3. [ncbi.nlm.nih.gov]

• Febrile Seizures

  Febrile seizures, from the age of 3 years, were followed by afebrile seizures. He has had no seizures since 5 years of age. An MRI of the brain showed agenesis of the corpus callosum and enlarged ventricles. [ncbi.nlm.nih.gov]

• Language Delays

  […] development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties [rarediseases.info.nih.gov]

See Workup for more detail. [emedicine.medscape.com]

[…] of anemia in subjects with CKD on dialysis, with treatment up to 52 weeks. [clinicaltrials.gov]

Treatment Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References Some studies evaluating anxiety treatments assess non-specific [aafp.org]

See Treatment and Medication for more detail. [emedicine.medscape.com]

Treatment Treatment Treatment is aimed at addressing the individual symptoms present in each case.[3][2][5] This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and [rarediseases.info.nih.gov]

[edit] Treatment for FG Syndrome is individualized to each person. [en.wikipedia.org]

Last updated: 3/16/2016 Prognosis Prognosis Serious complications of FG syndrome, such as heart defects, breathing complications, or gastrointestinal (GI) malformations, may shorten the lifespan of affected individuals. [rarediseases.info.nih.gov]

Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS). Presse Med. 2013 Jun. 42(6 Pt 2):e193-201. [Medline]. [emedicine.medscape.com]

C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]

The genetic etiology has been determined for only six autosomal dominant and one autosomal recessive sub-type including DA1 (OMIM 108120) caused by mutation in the TPM2 gene located on chromosome 9p13.3 (5), DA2A, DA2A7, and DA2A8 (OMIM 193700, 158300 [frontiersin.org]

Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008;50:104–111. [PubMed] [Google Scholar] 17. Schwartz CE, Tarpey PS, Lubs HA, et al. [ncbi.nlm.nih.gov]

Etiology GBS is considered to be a postinfectious, immune-mediated disease targeting peripheral nerves. [emedicine.medscape.com]

C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]

[…] study reported a decreased GBS incidence following administration of tetanus toxoid containing vaccinations when compared with the baseline population [60] An epidemiologic study failed to show any conclusive epidemiologic association between GBS and [emedicine.medscape.com]

Degenerative cervical myelopathy: Epidemiology, genetics, and pathogenesis. Spine (Philalelphia), 40(12), E675–E693. Pueschel, S. M., Findley, T. W., Furia, J., Gallagher, P. L., Scola, F. H., & Pezzullo, J. C. (1987). [sindromedownvidaadulta.org]

C 11, 37, 42 Epidemiology, Etiology, and Pathophysiology Abstract Epidemiology, Etiology, and Pathophysiology Typical Presentation and Diagnostic Criteria Differential Diagnosis and Comorbidity Treatment Referral and Prevention References The 12-month [aafp.org]

Cervical spondylotic myelopathy: A brief review of its pathophysiology, presentation, assessment, natural history and management. Orthopaedics and Trauma, 25(3),181–189. Young, W. F. (2000). [sindromedownvidaadulta.org]

Prevention Type 1 diabetes can't be prevented. However, the same healthy lifestyle choices that help treat prediabetes, type 2 diabetes and gestational diabetes can also help prevent them: Eat healthy foods. [mayoclinic.org]

Medication should be continued for 12 months before tapering to prevent relapse. [aafp.org]

Screening for osteoporosis in the adult U.S. population: ACPM position statement on preventive practice. American Journal of Preventive Medicine, 36(4), 366–375. [sindromedownvidaadulta.org]

Centers for Disease Control and Prevention. Available at http://www.cdc.gov/zika/hc-providers/diagnostic.html. 2016 Feb 11; Accessed: 2016 Feb 12. Souayah N, Nasar A, Suri MF, Qureshi AI. [emedicine.medscape.com]