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Opitz-Kaveggia Syndrome

FGS


Presentation

  • We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age.[ncbi.nlm.nih.gov]
  • They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity.[scielo.mec.pt]
  • We present case studies of five adult males who were previously published with the clinical diagnosis of FG syndrome and then subsequently proven by Risheg et al.[ncbi.nlm.nih.gov]
  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.com]
  • As the imperforate anus is not present in each case and constipation is a non-specific sign, Opitz-Kaveggia/FG can be hard to diagnose and it may therefore have gone unrecognised in the past.[cafamily.org.uk]
Short Stature
  • Patients show a distinctive facial appearance, a tall and prominent forehead, short stature, small prominente ears with simplified helical pattern, frontal hair upsweep, hypotonia and constipation.[scielo.mec.pt]
  • stature (see entry Restricted Growth ) seizures (see entry Epilepsy ) hearing loss (see entry Deafness ) hyperactivity and tantrums (see entry Attention Deficit Hyperactivity disorder ) friendly or out-going personality.[cafamily.org.uk]
  • Short stature. Striking personalities. In males. X-linked inheritance. Opitz and Kaveggia defined the disease picture in 1974 and termed it FG syndrome for the initials of the first published family. X-linked recessively inherited condition.[whonamedit.com]
  • stature due to endocrine disorder 2016 2017 2018 2019 Billable/Specific Code Applicable To Constitutional short stature Laron-type short stature Type 1 Excludes achondroplastic short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional[icd10data.com]
Broad Thumb
  • thumbs and halluces, abnormalities of the corpus callosum, intellectual disability, hypotonia, and characteristic behavior.[oxfordmedicine.com]
  • […] imperforate anus or severe constipation reduced or lax muscle tone in childhood; increased tone in adulthood minor changes in appearance such as high broad forehead with upsweep of the hairline (cow's lick), wide-apart eyes, smallish external ears, broad[cafamily.org.uk]
  • Right column, top to bottom: broad thumb of IV‐12, hand of IV‐12 showing hyperextensible joints, narrow alveolar ridge of IV‐12, foot of IV‐2 showing the second toe slightly longer than the big toe.[ncbi.nlm.nih.gov]
  • Typical features are small, simple, prominent, cupped or low set ears, narrow external auditory canals, frontal upsweep of hair, dolicocephaly, tall forehead, flat broad thumbs, distally adherent nails and hypotonia.[ashg.org]
Single Transverse Palmar Crease
  • Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov]
  • transverse palmar creases, and hypotonia.[nature.com]
Laboratory Technician
  • Laboratory Technician FGS Recruitment Sittingbourne 10 - 11 an hour *Laboratory Technician * Our client is recognised as a leading British-based international packaging business. They have over 80 years of expertise in this...[indeed.co.uk]
Collapse
  • […] free and emulsified water Removes ultra-fine solids Designed to shut down system flow under slug conditions Standard Design Features Max. recommended operating temperature: 240ºF (115ºC) Initial differential pressure: 2 psi (0.14 kg/cm²) or less Design collapse[pecofacet.com]
Failure to Thrive
  • A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.[icd10data.com]
Hearing Impairment
  • Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD)[genomediagnosticsnijmegen.nl]
  • Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. 0011220 Scoliosis Abnormal curving of the spine 0002650 Seizures Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people[rarediseases.info.nih.gov]
  • It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[icd10data.com]
Alopecia
  • PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN related hamartoma syndrome, autism, focal cortical dysplasia 20301661 RAB39B X-linked intellectual disability and macrocephaly with autism 20159109 RIN2 MACS syndrome (macrocephaly, alopecia[web.labmed.washington.edu]
  • Skeletal Thanatofore dysplasia Skeletal Torg-Winchester syndrome Skeletal Trichodontoosseus syndrome Skeletal Van den Ende-Gupta syndrome Skeletal Wiedemann-Steiner syndrome Skeletal Acral peeling skin syndrome Skin Acrodermatitis enteropathica Skin Alopecia[genomediagnosticsnijmegen.nl]
  • […] glomerulonephritis, type 3 Holoacardius Holoacardius acephalus Holoacardius acormus Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com]
  • Nephrolithiasis, type I 310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia[institutobernabeu.com]
Sparse Hair
  • Patients affected with this disease have disproportionate short stature, finger deformities, and dysmorphic facial features including sparse hair, a pyriform-shaped nose, and medially thick eyebrows. The epiphyses of the fingers are cone-shaped.[kundoc.com]
  • A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies.[icd10data.com]
  • The clinical phenotype of NCBRS highly overlaps with that of CSS and is characterized by facial dysmorphisms, sparse hair, short stature, microcephaly, and intellectual disability [Van Houdt et al., 2012].[karger.com]
Hair Whorl
  • Hair whorls were at the vertex and anteriorly in the right frontal area, with a frontal upsweep of scalp hair and a high anterior hairline. His face was long, narrow, and mildly myopathic with an open mouth and mild malar flattening.[nature.com]
Distractibility
  • The room must be free of distractions and at a comfortable temperature for the students.[iaff.org]
Hypertelorism
  • Originally described as distinct syndromes, the G and BBB syndromes are now summarized as a single disorder characterized by hypertelorism, hypospadias. and other midline defects.[accessanesthesiology.mhmedical.com]
  • Also called G syndrome , hypertelorism-hypospadias syndrome .[medical-dictionary.thefreedictionary.com]
  • Diagnosis Symptoms Mental retardation usually severe; Hyperactive behavior, often with an outgoing personality; Severe constipation Seizures Physical Examination Appearance of the Patient Short stature Head Macrocephaly Prominent forehead Eyes Hypertelorism[wikidoc.org]
  • These cases occur in people with no history of the disorder in their family. hypertelorism-hypospadias sydrome hypertelorism with esophageal abnormalities and hypospadias hypospadias-dysphagia syndrome Opitz BBB syndrome Opitz BBB/G syndrome Opitz-Frias[ghr.nlm.nih.gov]
  • Tarquinio Marinho , Ruth Andia-Merlin Published in Special care in dentistry : official publication… 2017 DOI: 10.1111/scd.12200 Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism[semanticscholar.org]
High, Prominent Forehead
  • prominent forehead with larger than average head circumference and somewhat widened and flattened-appearing thumbs and great toes.[cafamily.org.uk]
  • In FG syndrome, the major findings are agenesis of the corpus callosum, relative macrocephaly, facial dysmorphism (frontal hair upsweep, a high prominent forehead, hypertelorism, downslanting palpebrae, small cupped ears, a thin upper lip and a full lower[ncbi.nlm.nih.gov]
  • Less commonly reported clinical features include a high prominent forehead, frontal hair upsweep, hypertelorism, a high narrow palate, small posteriorly rotated ears, and narrow auditory canals [ Vulto-van Silfhout et al 2013 ]. Growth.[ncbi.nlm.nih.gov]
Hyperactivity
  • The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors.[ncbi.nlm.nih.gov]
  • The previously described behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with FG syndrome, along with socially oriented, attention-seeking behaviors.[ncbi.nlm.nih.gov]
  • […] and tantrums (see entry Attention Deficit Hyperactivity disorder ) friendly or out-going personality.[cafamily.org.uk]
  • They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity.[scielo.mec.pt]
Excessive Talking
  • The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors.[ncbi.nlm.nih.gov]
  • The previously described behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with FG syndrome, along with socially oriented, attention-seeking behaviors.[ncbi.nlm.nih.gov]
  • They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity.[scielo.mec.pt]
  • talkativeness, attention seeking and anxiety were evident in two individuals (IV‐12, V‐9), whereas two others were more passive and cooperative, at least in adult life.[ncbi.nlm.nih.gov]

Workup

Polyps
  • Educational Objectives: Upon completion of this course, participants should be able to: · Recognize the latest guidelines for screening and surveillance of colorectal cancer and polyps · Understand the epidemiology and pathophysiology of interval cancers[flgastro.org]
Colitis
  • Difficile colitis · Recognize the difference between recurrent C. Difficle colitis and overdiagnosis with oversensitive testing · Obtain hands-on experience with the newest endoscopic platforms and tools[flgastro.org]

Treatment

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]
  • The topics covered in this activity will be those oftentimes seen in everyday gastroenterology and hepatology practice, but will focus on specific advancements over the recent past which will provide cutting edge knowledge regarding approach and treatment[flgastro.org]
  • He is a world expert in the neurobiology and treatment of mood and anxiety disorders.[books.google.com]
  • Multidisciplinary treatments and support are required for the child who has complex or severe learning disabilities and surgical treatment is required to correct an imperforate or narrowed anus.[cafamily.org.uk]

Prognosis

  • However, the near absence of information on FGS available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such[ncbi.nlm.nih.gov]
  • Natural History, Complications and Prognosis About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection ; premature death is rare after infancy.[wikidoc.org]

Etiology

  • Etiology Several loci for the FG syndrome have been mapped to the X chromosome: FGS1 (OKS) to Xq12-q21.31 (MIM.305450), FGS2 (MIM.300321) to Xq28, FGS3 (MIM.300406) to Xp22.3, FGS4 (MIM.300422) to Xp11.4-p11.3, and FGS5 (MIM.300581) to Xq22.3. germline[humpath.com]
  • We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome.[pediatrics.aappublications.org]
  • Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology.[icd10data.com]
  • […] several other features of LFS can be found with Marfan syndrome, a connective tissue disorder . [4] The finding of aortic root dilation in both disorders suggests that a mutation in an unspecified connective tissue regulating gene may contribute to the etiology[wikiwand.com]
  • Individuals reported to have FGS have been linked to four additional loci on the X chromosome : However, identification of the underlying molecular etiology has been difficult because of the wide range of features reported in individuals clinically diagnosed[ncbi.nlm.nih.gov]

Epidemiology

  • Educational Objectives: Upon completion of this course, participants should be able to: · Recognize the latest guidelines for screening and surveillance of colorectal cancer and polyps · Understand the epidemiology and pathophysiology of interval cancers[flgastro.org]
  • Epidemiology and Demographics The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide.[wikidoc.org]
  • […] specialized follow-up care, including neuropshycological evaluation methods and therapies, and special education, should be given to diagnose and prevent psychiatric disorders and related behavioral problems such as psychosis and outbursts of aggression. [9] Epidemiology[wikiwand.com]
Sex distribution
Age distribution

Pathophysiology

  • Educational Objectives: Upon completion of this course, participants should be able to: · Recognize the latest guidelines for screening and surveillance of colorectal cancer and polyps · Understand the epidemiology and pathophysiology of interval cancers[flgastro.org]
  • Pathophysiology Genetics Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. In one of these regions, a mutation in a particular gene called MED12 has been found to cause the disorder.[wikidoc.org]
  • […] acid asparagine , normally located at position 1007 along the MED12 sequence, has been mistakenly replaced by serine . [27] This mutation in MED12 causes incorrect expression and activity of the protein it encodes, resulting in the disorder. [3] [9] Pathophysiology[wikiwand.com]
  • Role of a circadian-relevant gene, NR1D1, in the brain development: possible involvement in the pathophysiology of autism spectrum disorders. Sci. Rep., 2017; 7: 43945.[med.nagoya-u.ac.jp]

Prevention

  • Mayday Prevention, 2.) Being Ready for the Mayday, 3.) Self-Survival Procedures, 4.) Self-Survival Skills, and 5.) Fire Fighter Expectations of Command During a Mayday.[iaff.org]
  • Otherwise, you prevent from other students to take that course. Such conduct is considered as unethical![weizmann.ac.il]
  • World Kidney Forum Am J Kidney.Osteochondroma information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.Noun 1. opium addict - someone which was then followed by a US dictated[ojamor.olevofi.dx.am]
  • ] UPF3B is part of the nonsense-mediated mRNA decay (NMD) complex, which performs mRNA surveillance , detecting mRNA sequences that have been erroneously truncated (shortened) by the presence of nonsense mutations . [41] Mutations in UPF3B alter and prevent[wikiwand.com]
  • Prevention of secondary complications: Physical therapy for joint contractures in individuals with FGS1 or LS.[ncbi.nlm.nih.gov]

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