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Verheij Syndrome

Chromosome 8q24.3 Deletion Syndrome


Presentation

  • Once again, authoritative papers are presented here, beginning with a review by Rai and Black highlighting the salient features of mosquito genomes and their evolution.[books.google.de]
  • Acronym VRJS Synonyms Chromosome 8q24.3 deletion syndrome Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Verheij Syndrome, also known as chromosome 8q24.3 deletion syndrome , is related to 8q24.3 deletion syndrome .[malacards.org]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Verheij Syndrome, is also known as chromosome 8q24.3 deletion syndrome .[malacards.org]
Short Stature
  • stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion 0002948 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge[rarediseases.info.nih.gov]
  • Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. European Journal of Human Genetics, 25 (1), 43-51.[rug.nl]
  • Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies short stature-characteristic facies-mental[ghr.nlm.nih.gov]
  • stature IEA IEA OMIM-CS:GROWTH_HEIGHT SHORT STATURE OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER GROWTH RETARDATION OMIM:615583[sourceforge.net]
  • The consistent feature was developmental delay and most patients had short stature.[nature.com]
Poor Feeding
  • Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL POOR[sourceforge.net]
Dentist
  • This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.[books.google.de]
Poor Feeding
  • Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL POOR[sourceforge.net]
Short Finger
  • Some patients only have a small bald area on the scalp and short fingers, while others are born with absence of skin on parts of the scalp, defects of the skull bones and complete absence of fingers or toes.[atlasofscience.org]
Hip Dislocation
  • dislocation Short 5th finger Abnormality of the abdomen ... ...[familydiagnosis.com]
  • Treatment is based on the signs and symptoms present in each person. 0011968 Global developmental delay 0001263 Hemivertebrae Missing part of vertebrae 0002937 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Long philtrum 0000343 Microcephaly[rarediseases.info.nih.gov]
  • dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002948 Vertebral fusion IEA IEA OMIM-CS:SKELETAL_SPINE FUSED VERTEBRAE[sourceforge.net]
Short Fifth Finger
  • fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov]
  • FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583[sourceforge.net]
Short Fifth Finger
  • fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov]
  • FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583[sourceforge.net]
Joint Dislocation
  • Patients 2 (DDD273705), 7, 9, 10 and 12 also had joint hypermobility; in one case this was associated with bilateral hip and interphalangeal joint dislocations.[nature.com]
  • dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD) Congenital disorders of amino acid metabolism Phenylketonuria Tyrosinemia Alkaptonuria Hermansky-Pudlak syndrome Oculocutaneous albinism (OCA) Ocular albinism[csirnotes.com]
Small Head
  • head circumference [ more ] 0000252 Narrow forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089[rarediseases.info.nih.gov]
  • People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly).[ghr.nlm.nih.gov]
Psychomotor Retardation
  • An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. September-October 2009; 52(5):353-357.[rarediseases.info.nih.gov]
  • Verheij JBGM , de Munnik SA , Dijkhuizen T et al : An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions .[nature.com]
Short Neck
  • Affiliated tissues include kidney and heart , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly[malacards.org]
  • Affiliated tissues include kidney , heart and bone , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal[malacards.org]
  • neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion[rarediseases.info.nih.gov]
  • neck IEA IEA OMIM-CS:HEAD AND NECK_NECK SHORT NECK OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE BROAD NASAL ROOT OMIM[sourceforge.net]
  • Facial features The facial features ( Figure 4 ) included a short neck in five patients, a high forehead in six, micrognathia in four, a long philtrum in five, bushy eyebrows in four and a thin upper lip in four patients.[nature.com]
Short Neck
  • Affiliated tissues include kidney and heart , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly[malacards.org]
  • Affiliated tissues include kidney , heart and bone , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal[malacards.org]
  • neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion[rarediseases.info.nih.gov]
  • neck IEA IEA OMIM-CS:HEAD AND NECK_NECK SHORT NECK OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE BROAD NASAL ROOT OMIM[sourceforge.net]
  • Facial features The facial features ( Figure 4 ) included a short neck in five patients, a high forehead in six, micrognathia in four, a long philtrum in five, bushy eyebrows in four and a thin upper lip in four patients.[nature.com]
Narrow Forehead
  • Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly[familydiagnosis.com]
  • forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine[rarediseases.info.nih.gov]
  • forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE BITEMPORAL NARROWING OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE LONG PHILTRUM[sourceforge.net]
Narrow Forehead
  • Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly[familydiagnosis.com]
  • forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine[rarediseases.info.nih.gov]
  • forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE BITEMPORAL NARROWING OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE LONG PHILTRUM[sourceforge.net]
Broad Nasal Bridge
  • nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
  • The facies is considered by some as characteristic with a square configuration, broad forehead, flat midface, and a broad nasal bridge. Infant and childhood morbidity is high with feeding difficulties a major cause of death.[disorders.eyes.arizona.edu]
Seizure
  • […] to the behavioral, experiential, and biomedical features of the autism spectrum disorders including major behavioral and cognitive syndromology, common co-morbid conditions, neuropathology, neuroimmunology, and other neurological correlates such as seizures[books.google.de]
  • […] disease hsa04310 Wnt signaling pathway H01775 PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures[kegg.jp]
  • Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[ghr.nlm.nih.gov]
  • Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) Benign familial neonatal and infantile epilepsies Ataxia with ocular apraxia (AOA) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic generalied[csirnotes.com]
  • ARTS syndrome (ARTS) [MIM: 301835 ] Deafness, X-linked, 1 (DFNX1) [MIM: 304500 ] PRRT2 Q7Z6L0 pleiotropic Episodic kinesigenic dyskinesia 1 (EKD1) [MIM: 128200 ] Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM: 602066 ] Seizures[sbg.bio.ic.ac.uk]
Convulsions
  • An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. September-October 2009; 52(5):353-357.[rarediseases.info.nih.gov]
  • MIM: 300661 ] Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM: 311070 ] ARTS syndrome (ARTS) [MIM: 301835 ] Deafness, X-linked, 1 (DFNX1) [MIM: 304500 ] PRRT2 Q7Z6L0 pleiotropic Episodic kinesigenic dyskinesia 1 (EKD1) [MIM: 128200 ] Convulsions[sbg.bio.ic.ac.uk]
  • Verheij JBGM , de Munnik SA , Dijkhuizen T et al : An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions .[nature.com]
  • At 4 years old he had a convulsive episode that was not further studied. Started school at 5 years but began having learning problems, exhibiting hyperactivity and poor response obeying orders.[scielo.org.co]
Absent Kidney
  • kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine 0002650 Short 5th finger Short fifth finger Short fifth fingers Short[rarediseases.info.nih.gov]

Workup

Delayed Bone Age
  • A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2.[ghr.nlm.nih.gov]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Approximately 1 in 150 children are diagnosed as autistic, so it is also an intense growth area in behavioral and educational treatments.[books.google.de]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Verheij Syndrome, also known as chromosome 8q24.3 deletion syndrome , is related to 8q24.3 deletion syndrome .[malacards.org]

Prognosis

  • When the scalp and/or cranial bone defects are severe, early surgical intervention with grafting is indicated. [ citation needed ] Prognosis [ edit ] The overall prognosis is excellent in most cases.[en.wikipedia.org]
  • Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ...[kegg.jp]
  • The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis.[panafrican-med-journal.com]
  • In addition, this study demonstrated a better prognosis of NCPF/IPH compared to that of cirrhosis. The term NCPF was subsequently endorsed by the Indian Council of Medical Research.[jpatholtm.org]

Etiology

  • ETIOLOGY No definite etiology is identified in more than half of the patients with INCPH [ 46 ].[jpatholtm.org]
  • Congenital malformation H01795 Blepharophimosis-mental retardation syndrome Ohdo syndrome Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features[kegg.jp]
  • Driscoll DA, Budarf ML, Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50(5):924–933 PubMed PubMedCentral 4.[springermedizin.de]
  • RESULTS Here we report the study of a family through an index case that was referred to the medical genetics and dysmorphology consultation at Hospital Universitario del Valle for further evaluation due to the presentation of ID of unknown etiology and[scielo.org.co]

Epidemiology

  • […] spectrum disorders including major behavioral and cognitive syndromology, common co-morbid conditions, neuropathology, neuroimmunology, and other neurological correlates such as seizures, allergy and immunology, gastroenterology, infectious disease, and epidemiology[books.google.de]
  • The emergence of the concept of X-linked mental retardation (XLMR) is discussed by Neri and Chiurazzi, as well as epidemiologic data and XLMR gene updates.[books.google.de]
  • The overall aim of this thesis was to study epidemiology and risk factors to optimize patient selection and techniques for surgical treatment of PA.[mdruppsala.se]
  • No epidemiological data are available in Colombia.[scielo.org.co]
  • FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med. 2001 Sep-Oct;3(5):359-71. (2.) Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al.[aprendeenlinea.udea.edu.co]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of this syndrome requires depletion of stem cell clonogens (SCCs) within the crypts of Lieberkühn, which are a subset of cells necessary for postinjury regeneration of gut epithelium.[jci.org]

Prevention

  • Moreover, we report the generation of 2A2, an anti-ceramide monoclonal antibody that binds to ceramide to prevent platform formation on the surface of irradiated endothelial cells of the murine GI tract.[jci.org]
  • We can explain the discordance of mental capacity between the twin sisters by the fact that the number of FMRP expressing neurones in the brain of the affected sister is insufficient to prevent mental retardation.[jmg.bmj.com]
  • […] mutation in the fibrilin-1 gene ( FBN1 ) in association with aortic root dilatation. 1 Of the more than 1800 mutations identified, most are specific to a single family, and 25% are de novo mutations; high intrafamiliar and interfamiliar variation has prevented[revespcardiol.org]
  • Correspondence ABSTRACT Introduction: The high prevalence of metabolic syndrome (MS) in Spain requires additional efforts for prevention and treatment.[scielo.isciii.es]
  • The altered protein is unable to bind to DNA, preventing it from turning on particular genes. These changes in gene activity impair the proper development of the skin, bones, and other tissues, leading to the features of Adams-Oliver syndrome .[ghr.nlm.nih.gov]

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