Those who survive childbirth present with general failure to thrive, bone marrow failure or characteristic facies. [radiopaedia.org]

Acronym HYC1 Synonyms Hydrocephalus, non-syndromic, autosomal recessive 1 Hydrocephaly Ventriculomegaly Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

They are less likely to present with lens dislocation. Key learning points Marfan syndrome can present with severe cardiac problems. Marfan syndrome can present in a very similar way to Homocystinuria and Ehler Danlos syndrome. [www2.le.ac.uk]

However, most of these patients (60%) presented with associated optic pathway tumors and aqueductal stenosis. [ispn.guide]

Results: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. [dialnet.unirioja.es]

• Epilepsy

  Neuropathy with hearing impairment Oculodentodigital dysplasia Progressive myoclonic epilepsy with dystonia Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Stickler syndrome type 3 Syndactyly type 3 Thyroid hypoplasia Transgrediens [csbg.cnb.csic.es]

  […] exons of the gene - - 1.6 CACNB4 Idiopathic generalised Epilepsy (IGE) Sequencing of all coding exons of the gene - - 1.6 CACNB4 Juvenile Myoclonus Epilepsy (JME) Sequencing of all coding exons of the gene - - 1.6 CAPN3 Limb-Girdle Muscular Dystrophies [cegat.de]

  myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - 2 1 TBC1D24 - - 00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - 5 4 TBC1D24 - - 00318 - cancer [databases.lovd.nl]

  juvenile myoclonic, susceptibility to, 8} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 [mnglabs.com]

  // PLoS ONE;2011, Vol. 6 Issue 9, p1 Mutations in the LGI1 gene predispose to a hereditary epilepsy syndrome and is the first gene associated with this disease which does not encode an ion channel protein. [connection.ebscohost.com]

• Fever

  […] behavior Emphysema Cutis marmorata Cutis laxa Abnormality of dental morphology Large hands Prominent supraorbital ridges Schizophrenia Redundant skin Widely spaced teeth Coarse hair Sloping forehead Small for gestational age Oligohydramnios Spasticity Fever [mendelian.co]

  FEVER, AUTOSOMAL DOMINANT Sequencing of hotspots Sequencing of all coding exons of the gene - 1.6 MEFV - HS2 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE Sequencing of hotspots Sequencing of all coding exons of the gene - 1.6 MEFV - HS3 FAMILIAL [cegat.de]

  […] autosomal dominant 605280 118190 Autosomal dominant HSPG2 1p36.12 Dyssegmental dysplasia, Silverman-Handmaker type 224410 142461 Autosomal recessive HSPG2 1p36.12 Schwartz-Jampel syndrome, type 1 255800 142461 Autosomal recessive HTR1A 5q12.3 Periodic fever [mnglabs.com]

• Fatigue

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

• Failure to Thrive

  Those who survive childbirth present with general failure to thrive, bone marrow failure or characteristic facies. [radiopaedia.org]

  The possible complications that may arise due to VACTERL with Hydrocephalus include: Congestive heart failure characterized by the following features: Tachypnea: Rapid rate of breathing Wheezing Tachycardia: Fast heart beat Failure to thrive Tracheoesophageal [dovemed.com]

  Feeding difficulties and failure to thrive may be managed with gastrostomy tube placement. Placement of a shunt may be necessary in children with HPE and hydrocephalus. [en.wikibooks.org]

  Coeliac disease presenting with diarrhoea, steatorrhoea and failure to thrive. Scwachmann-Diamond syndrome. [www2.le.ac.uk]

  […] to thrive Right hemiplegia Ataxia Enlarged cerebellum Aplasia/Hypoplasia of the mandible Tremor Blindness Metaphyseal chondrodysplasia Muscular hypotonia of the trunk Sensory neuropathy Pallor Irritability Developmental regression Clonus Weight loss [mendelian.co]

• Myopathy

  Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital nemaline myopathy Typical nemaline myopathy Hepatocellular carcinoma, childhood-onset Familial isolated congenital [csbg.cnb.csic.es]

  […] syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy [en.wikipedia.org]

  actin, congenital, with cores 161800 102610 Autosomal dominant; Autosomal recessive ACTA1 1q42.13 Myopathy, actin, congenital, with excess of thin myofilaments 161800 102610 Autosomal dominant; Autosomal recessive ACTA1 1q42.13 Nemaline myopathy 3, [mnglabs.com]

  Naveen; Mittal, Tulika; Khanna, Roopali; Gupta, Shipra; Seth, Prahlad Kishore; Mittal, Balraj // PLoS ONE;2011, Vol. 6 Issue 9, p1 Rationale: Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies [connection.ebscohost.com]

  Sequencing of all coding exons of the gene - - 1.1 ACTA1 Nemaline Myopathy Sequencing of all coding exons of the gene - - 1.1 ACTA2 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Sequencing of all coding exons of the gene - - 1.1 ACTA2 MOYAMOYA DISEASE 5 [cegat.de]

• Suggestibility

  But emerging experience suggests that this is an oversimplification that may contribute to inaccurate information about both outcome and genetic risks. [rarediseases.org]

  Prenatal diagnosis possible: Hydrocephalus usually becomes apparent after 18–20 weeks’ gestation; adducted thumbs in the first trimester of pregnancy are highly suggestive of X-linked hydrocephalus ( 95 ). [ispn.guide]

  Conclusions Our data validate CCDC88C as causing autosomal recessive, primary non-syndromic congenital hydrocephalus, suggesting this gene may be an important cause of congenital hydrocephalus, and underscore the important role of the C-terminal PDZ domain-binding [jmg.bmj.com]

  Hydronephrosis (suggestive of obstructive uropathy). Hyperechoic fetal kidneys (suggestive of polycystic disease). [patient.info]

  Aspirin taken during pregnancy has also been suggested to reduce the risk of recurrent miscarriage. [www2.le.ac.uk]

• Seizure

  Diseases related with Hydrocephalus and Generalized seizures In the following list you will find some of the most common rare diseases related to Hydrocephalus and Generalized seizures that can help you solving undiagnosed cases. [mendelian.co]

  Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. [ncbi.nlm.nih.gov]

  Loss of Zebrafish lgi1b Leads to Hydrocephalus and Sensitization to Pentylenetetrazol Induced Seizure-Like Behavior. [connection.ebscohost.com]

  This accumulation causes macrocephaly, seizures, decreased IQ, and brain malformations such as thinning of the cerebral cortex and a simplified gyration pattern. [cags.org.ae]

  Anticonvulsive therapies can help decrease the frequency and intensity of seizures. Feeding difficulties and failure to thrive may be managed with gastrostomy tube placement. [en.wikibooks.org]

• Ataxia

  Spinocerebellar ataxia 40 (SCA40) [MIM:616053]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. [genecards.org]

  141500 601011 Autosomal dominant CACNA1A 19p13.13 Episodic ataxia, type 2 108500 601011 Autosomal dominant CACNA1A 19p13.13 Spinocerebellar ataxia 6 183086 601011 Autosomal dominant CACNA1A 19p13.13 Epileptic encephalopathy, early infantile, 42 617106 [mnglabs.com]

  […] heterotopia Postsynaptic congenital myasthenic syndromes Precursor T-cell acute lymphoblastic leukemia Primary dystonia, DYT4 type Primary peritoneal carcinoma Sclerosteosis Severe early-onset axonal neuropathy due to NEFL deficiency Spinocerebellar ataxia [csbg.cnb.csic.es]

  1 Repeat expansion analysis - - 2.4 ATXN2 Spinocerebellar Ataxia 2 Repeat expansion analysis - - 3.9 ATXN3 Machado-Joseph Disease Repeat expansion analysis - - 1.1 ATXN7 Spinocerebellar Ataxia 7 Repeat expansion analysis - - 2.8 B9D1 Meckel Syndrome [cegat.de]

  Definition (MSH) Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA. [fpnotebook.com]

• Cerebellar Ataxia

  […] oxidative phosphorylation defect type 13 Craniometaphyseal dysplasia Deafness-infertility syndrome EAST syndrome Erythrokeratodermia variabilis Familial infantile myoclonic epilepsy Fibrochondrogenesis Focal epilepsy - intellectual deficit - cerebro-cerebellar [csbg.cnb.csic.es]

  cerebellar ataxia 141500 601011 Autosomal dominant CACNA1A 19p13.13 Episodic ataxia, type 2 108500 601011 Autosomal dominant CACNA1A 19p13.13 Spinocerebellar ataxia 6 183086 601011 Autosomal dominant CACNA1A 19p13.13 Epileptic encephalopathy, early infantile [mnglabs.com]

  1 Repeat expansion analysis - - 2.4 ATXN2 Spinocerebellar Ataxia 2 Repeat expansion analysis - - 3.9 ATXN3 Machado-Joseph Disease Repeat expansion analysis - - 1.1 ATXN7 Spinocerebellar Ataxia 7 Repeat expansion analysis - - 2.8 B9D1 Meckel Syndrome [cegat.de]

• Poor Coordination

  Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. [genecards.org]

  Signs & Symptoms The symptoms of Dandy Walker syndrome typically include developmental delay, low tone (hypotonia) or later high tone (spasticity), poor coordination and balance (ataxia), and sometimes enlarged head circumference and increased pressure [rarediseases.org]

  Aspiration pneumonia can be a complication of poor coordination of swallowing. Erratic sleep patterns can occur. [en.wikibooks.org]

• Hematuria

  1 Sequencing of all coding exons of the gene - - 5 COL4A1 Retinal arteries, tortuosity of Sequencing of all coding exons of the gene - - 5 COL4A3 Alport syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis - 5 COL4A3 Hematuria [cegat.de]

• Posterior Fossa Cysts

  The calvarium has been removed, exposing a cavernous, fluid-filled posterior fossa cyst. The arch in the middle of the picture is the tentorial opening. The cerebellum, immersed in fluid, is seen in the bottom of the cyst. [neuropathology-web.org]

  Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. AJNR 1989; 10:977-988. Bordarier C, Aicardi J. [rarediseases.org]

Treatment involves the surgical placement of a ventriculoperitoneal shunt that diverts the flow of CSF, allowing it to be absorbed as part of the normal circulatory process. [cags.org.ae]

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]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

There is no uniform treatment that encompasses all the potential manifestations of the craniosynostosis syndromes; treatment methods are multifaceted and dependent on factors such as the age, time of diagnosis, suture(s) involved, severity of the condition [eyewiki.aao.org]

Prognosis Prognosis for DWM varies anywhere from excellent to fatal. [encyclopedia.com]

Prognosis of the disorder depends on early diagnosis and treatment. The disorder can be diagnosed by clinical neurological evaluations and by imaging techniques such as ultrasonography, CT, MRI, or pressure-monitoring techniques. [cags.org.ae]

The prognosis for those who are not treated is poor, especially in children who have early visual and hematologic impairment 5. autosomal dominant osteopetrosis ( bone-within-a-bone appearance is AD) chronic renal failure oxalosis pyknodysostosis physiological [radiopaedia.org]

Prenatal diagnosis can then allow appropriate patient counselling regarding prognosis as well as obstetrical and neonatal care. [thieme-connect.com]

[…] delays and physical challenges In a majority, the prognosis is poor Additional and Relevant Useful Information for VACTERL with Hydrocephalus: A congenital manifestation of hydrocephalus indicates that the causal factor has an origin in the womb, or [dovemed.com]

The etiologies of congenital hydrocephalus include infections, vascular abnormalities, mechanical obstruction and chromosomal abnormalities. [omicsonline.org]

Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. [thieme-connect.com]

The etiology of hydrocephalus depends upon the age of the child. [clinicalgate.com]

Genetic Etiology X-linked hydrocephalus (L1 syndrome) and its variants First described in 1949, linked to X chromosome in 1961: An X-linked syndrome characterized by congenital hydrocephalus, stenosis of the aqueduct, adducted thumbs, and spastic paraparesis [ispn.guide]

The clinical profile, etiology, and genetics of the DWM are heterogeneous. [neuropathology-web.org]

An epidemiological study based on 270 probands. Z Kinderchir 1984; 39(2): 94-95. Stoll C, Alembik Y, Dott B et al. An epidemiological study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol 1992; 8: 797-803. [bioline.org.br]

Stein SC, Feldman JG, Stewart A, et al (1981) The epidemiology of congenital hydrocephalus: a study in Brooklyn, N.Y. 1958–1976. Child Brain 8:253 Google Scholar 62. [link.springer.com]

Relevant External Links for MPDZ Genetic Association Database (GAD) MPDZ Human Genome Epidemiology (HuGE) Navigator MPDZ Atlas of Genetics and Cytogenetics in Oncology and Haematology: MPDZ No data available for Genatlas for MPDZ Gene SynGAP-MUPP1-CaMKII [genecards.org]

1 1 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark Search for other works by this author on: Klaus Rostgaard Marie-Louise Hee Rasmussen 1 1 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark [academic.oup.com]

Congenital malformations in singletons : epidemiologic survey. Birth Defects 1974; 10: 1-58. 5. Aicardi J. Abnormalities associated with migration disorders, In: Aicardi J, Bax M, Gillberg C, Ogler H editors. [neurosciencesjournal.org]

According to Bateman, venous hypertension should be considered as the most crucial factor in the pathophysiology of LIAS. [ispn.guide]

Etiology and Pathophysiology Hydrocephalus can be a symptom of a large number of disorders, and a list of conditions in which it has been reported is summarized in Box 27-1. [clinicalgate.com]

Pathophysiology, diagnosis, and clinical features of hydrocephalus in infants and children. Tindall GT, Cooper PR, Barrow DL (eds): The Practice of Neurosurgery. Baltimore, Williams & Wilkins, 1996, pp 2689-2705. Adams C, Johnston WP, Nevin NC. [bioline.org.br]

Currently, there are no specific methods or guidelines to prevent VACTERL with Hydrocephalus, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]

Today, with prompt diagnosis and shunting, permanent neurological damage can be prevented in most cases. [neuropathology-web.org]

Prevention A study of antenatal ultrasound screening in 12 European countries has shown that a great many abnormalities of the renal tract may be detected in the second trimester, allowing termination of pregnancy to be considered. [ 13 ] There is considerable [patient.info]

However, some infants with definite hydrocephalus exhibit no such signs, as hydrocephalus may have developed slowly and the splaying of the sutures may have prevented the intracranial pressure from increasing considerably. [clinicalgate.com]

Barbara then came back to discuss the pros and cons of preventative breast and ovarian surgery. At this point she has decided to continue with her normal screening. [www2.le.ac.uk]