In conclusion, we present here a de novo 500 kb triplication at Xq25 that overlaps almost perfectly with several previously reported microduplications in this region and presenting with a similar phenotype. [alabmed.com]

Signs and symptoms ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance. [checkrare.com]

Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum. [rarediseases.org]

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.de]

The presenting phenotype in the families was moderate mental retardation (MR) in two or more males. [egl-eurofins.com]

• Marfanoid Habitus

  Some patients have marfanoid habitus. Molecular pathology Defects in ZDHHC9, which encodes a zinc finger protein, cause MRXSZ. [medical-dictionary.thefreedictionary.com]

  habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. [informatics.jax.org]

  habitus - XLMR with marfanoid habitus Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities [csbg.cnb.csic.es]

  Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Human Gen. 2007, 80:982-987. [egl-eurofins.com]

  habitus Additional information Further information on this disease Classification(s) (0) Gene(s) (0) Other website(s) (0) Health care resources for this disease Expert centres (0) Diagnostic tests (0) Patient organisations (0) Orphan drug(s) (0) Research [orpha.net]

• Progressive Polyneuropathy

  polyneuropathy Thyrotoxic periodic paralysis Tibial muscular dystrophy, tardive Tourette syndrome Tremor essential Tuberous sclerosis Ullrich congenital muscular dystrophy Unverricht-Lundborg disease Urocanase deficiency Ventriculomegaly with cystic [qlinics.com]

• Prognathism

  Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism. [alabmed.com]

  Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability With Marfanoid Habitus X-Linked Mandibulofacial Dysostosis X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism [familydiagnosis.com]

• Psychomotor Retardation

  The proband was an 8-year-old boy referred to the genetics unit for psychomotor retardation and learning disabilities. Both maternal brothers also showed learning difficulties and delayed language during childhood in a similar way to the proband. [pediatrics.aappublications.org]

  retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Psychic / behavioural troubles - Scoliosis - Speech troubles / aphasia [csbg.cnb.csic.es]

  retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. [mendelian.co]

  retardation Ptosis, congenital Pyridoxine-dependent epilepsy Pyruvate carboxylase deficiency Renpenning syndrome Rett syndrome preserved speech variant Rigid spine muscular dystrophy Rippling muscle disease Rolandic epilepsy, mental retardation, and [qlinics.com]

• Narrow Face

  / septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow [csbg.cnb.csic.es]

  face Stereotypy Joint hyperflexibility Gait disturbance Hypoplasia of the corpus callosum Hypertonia Abnormality of metabolism/homeostasis Dystonia Malar flattening Small forehead Pes cavus Constipation Alopecia areata Attention deficit hyperactivity [mendelian.co]

  The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple, low-set, prominent ears; and puffy eyelids. [nature.com]

  Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders. [aetna.com]

• Narrow Forehead

  Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism. [alabmed.com]

  forehead Agenesis of corpus callosum Blindness Holoprosencephaly Long fingers Hearing impairment Psychosis Amblyopia Open bite Hyperplasia of the maxilla Pain Downslanted palpebral fissures Wide nasal bridge Blepharophimosis Short philtrum Sparse hair [mendelian.co]

• Broad Nasal Bridge

  nasal bridge, a long upper lip, an abnormally small lower jaw (hypoplastic mandible), and/or unusually large and/or “cup-shaped” ears. [rarediseases.org]

• Language Delays

  The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. J Pediatr 1998 132 (5)795–801. [ PubMed ] [ Google Scholar ] 75. Faradz S M, Leggo J, Murray A, Lam‐Po‐Tang P R, Buckley M F, Holden J J. [ncbi.nlm.nih.gov]

  He walked at the age of 4 years and showed marked expressive language delay. He had his first seizure when he was 5 years old and was diagnosed with temporal lobe epilepsy. Brain CT scan showed no anomalies. [ojrd.biomedcentral.com]

• Dysarthria

  Long palpebral fissure Tremor Fair hair Long toe Inappropriate laughter Obesity Brachycephaly Thick vermilion border X-linked dominant inheritance Postnatal microcephaly Prominent supraorbital ridges Macroorchidism Maxillary lateral incisor microdontia Dysarthria [mendelian.co]

  […] microcephaly Neurogenic scapuloperoneal syndrome, Kaeser type Neuromyotonia and axonal neuropathy Neuronal migration disorder Neuronopathy distal hereditary motor Neuropathy sensor Neuropathy with liability to pressure palsies Neuropathy with sensory ataxic, dysarthria [qlinics.com]

  Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

• Poor Coordination

  In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

  coordination, olfactory deficit, diabetes mellitus, and congenital heart disease. [aetna.com]

• Delayed Speech and Language Development

  speech and language development Behavioral abnormality X-linked recessive inheritance Ataxia Ptosis Cleft palate Absent speech Nevus Language impairment Astigmatism Macrotia Macrocephaly Autosomal recessive inheritance Thin upper lip vermilion Feeding [mendelian.co]

Clinical workup of patients with ID should include karyotyping and, if clinically indicated, analysis for specific chromosome (Wolf-Hirschhorn, Angelman, Williams, etc.) or single gene (Noonan syndrome, Kabuki syndrome, etc.) disorders. [karger.com]

These authors also noted that none of the studies reported on the value of the absence of any neurologic abnormality for a diagnostic workup and concluded that “the value for finding abnormalities or the absence of abnormalities must be higher” than the [pediatrics.aappublications.org]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]

Treatment options for ALD are limited. Dietary treatment is with Lorenzo’s oil. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. [checkrare.com]

Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management. [books.google.it]

Our test offering now includes Genomic Medicine, Hereditary Cancer Risk Assessment, Expanded Carrier Screening, Pharmacogenomics & Personalized Medicine, Cardiomyopathy, and Whole Exome & RNA Sequencing for precision treatment of tumors, and testing for [otogenetics.com]

“As physicians we have experience with other children who have the same disorder, access to management programs, knowledge of the prognosis, awareness of research on understanding the disease and many other elements that when shared with the parents will [pediatrics.aappublications.org]

The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis. [aetna.com]

[…] tests include establishing an etiologic diagnosis in patients with neurodevelopmental manifestations but without syndromic features, ending the diagnostic odyssey of many visits to specialists, avoiding other forms of testing, improving understanding of prognosis [effectivehealthcare.ahrq.gov]

Data-driven discovery of seasonally linked diseases from an Electronic Health Records system Background Patterns of disease incidence can identify new risk factors for the disease or provide insight into the etiology. [openaire.eu]

(For AAP guidance related to Autism Spectrum Disorders, see Johnson and Myers. 2 ) For both pediatric primary care providers and families, there are specific benefits to establishing an etiologic diagnosis ( Table 1 ): clarification of etiology; provision [pediatrics.aappublications.org]

Etiology is heterogeneous, owing to numerous genetic and environmental factors. Underlying etiology remains undetermined in 75–80% of mildly disabled patients and 20–50% of those severely disabled. [karger.com]

The consequences often are moderate to profound MR of unknown etiology. [scielo.br]

However little data exists about the epidemiological relevance of familial MR. [scielo.br]

You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message [orpha.net]

XLMR with marfanoid habitus Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. [ncbi.nlm.nih.gov]

Following epidemiologic evidence, we used the rate of congenital malformations of the reproductive system as a... [openaire.eu]

Peripheral motor contributions to the pathophysiology of BVVL-related mutations in riboflavin transporter 3: Pathophysiological insights from nerve excitability testing. 2013 Meeting of the Peripheral Nerve Society, USA: Wiley-Blackwell Publishing, Inc [sydney.edu.au]

Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701–713 (2006). Chiurazzi P, Schwartz CE, Gecz J, Neri G: XLMR genes: update 2007. [karger.com]

The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet 2007; 8:109-129. [ Links ] 12. Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. [scielo.br]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. [rarediseases.org]

A preventable cause of MR, FAS represents the upper extreme of a large spectrum of effects caused by fetal alcohol exposure. [scielo.br]

Common (but preventable) environmental causes of ID are iodine deficiency and malnutrition (of both mother and child), affecting millions of people in “developing countries”. [f1000research.com]

Interventions for the prevention and treatment of pes cavus (Review). Cochrane Database of Systematic Reviews, (4), 1-18. [More Information] Crosbie, W., Burns, J. (2007). [sydney.edu.au]