This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility. [diapedia.org]

Thus, we present a case of CADASIL with psychotic symptoms at a tertiary-care psychiatric hospital. [gpsych.bmj.com]

Cardiac conduction defects, pulmonic stenosis, and hypertrophic cardiomyopathy are often (85%) present. Cognitive defects are present in 30% of patients and some individuals have been described as mentally retarded. [disorders.eyes.arizona.edu]

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals [books.google.com]

• Epilepsy

  Progressive myoclonic epilepsies. Curr Treat Options Neurol. 2002;4:3-17. Pranzatelli MR, Tate ED. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. Pediatr Neurol. 2001;25:385-89. [rarediseases.org]

  These seizures types are not always easily classified into existing epilepsy syndromes, but sometimes patients are diagnosed with a myoclonic astatic epilepsy (MAE, Doose Syndrome) or Epilepsy with Myoclonic Absences (EMA). [epilepsygenetics.net]

  EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES [mendelian.co]

  (PMID: 10521432) Michelson RJ … Huggenvik JI (The Journal of biological chemistry 1999) 3 4 22 60 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. [genecards.org]

  MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay. [uniprot.org]

• Coarse Facial Features

  facial features Growth delay Polymicrogyria Status epilepticus Generalized myoclonic seizures Urinary incontinence Focal-onset seizure Febrile seizures Epileptic encephalopathy Generalized-onset seizure Apraxia Hemiparesis Continuous spike and waves [mendelian.co]

• Delayed Dentition

  MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition [medical-dictionary.thefreedictionary.com]

• Hirsutism

  […] patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, and hirsutism [medical-dictionary.thefreedictionary.com]

  Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]

  […] abnormalities (tear duct obstruction, ptosis, strabismus, glaucoma, coloboma, cataract, refractive error), congenital heart defects (PDA, VSD, ASD), urinary tract malformations, specific dental abnormalities, epilepsy, and skin features (naevus flammeus, hirsutism [atlasgeneticsoncology.org]

  A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations [icd10data.com]

• Sparse Hair

  A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. [icd10data.com]

  Sparse hair, intrauterine growth retardation and low birth weight are also features. Few patients with Revesz syndrome have been reported and the clinical features have not been fully delineated. [disorders.eyes.arizona.edu]

  hair, limited movement, hypertonicity, seizures, arterial tortuosity, childhood death Membrane transporter, copper-exporting ATPase activity Table 4. [intechopen.com]

• Muscle Hypotonia

  A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. [medical-dictionary.thefreedictionary.com]

  Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

  hypotonia; Muscle hypertonicity; Spasticity NEUROLOGIC: [Central nervous system]; Psychomotor retardation, severe to profound; Seizures (rare) MISCELLANEOUS: Contiguous gene deletion syndrome MOLECULAR BASIS: Caused by deletion of 6-12Mb on 3pter-p25 [findzebra.com]

• Torticollis

  Oftentimes they demonstrate torticollis. They may have difficulty directing their hands to a toy, generating a flinging hand motion. [massgeneral.org]

  […] peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional sandifer anomaly (abnormal body posturing, torticollis [icd10data.com]

  […] exercise intolerance Muscle weakness Neuropathy After birth 0.6/dead Other signs Reference Gastrointestinal dysmotility [5] Hearing loss, hypogonadism [5] Acute disseminated encephalomyelitis, drowsiness, spasticity Sensory defect Heart block Hypoacusia Torticollis [kundoc.com]

• Coarse Face

  The facial skin showed a spectrum ranging from a coarse face over an aged appearance to overt cutis laxa. [ojrd.biomedcentral.com]

  Face Mesomelia-Synostoses Syndrome Mesomelic Limb Shortening and Bowing Michels Caskey Syndrome Microcephaly Albinism Digital Anomalies Syndrome Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly, Growth Retardation, Cataract, Hearing [rgd.mcw.edu]

  face, ocular hypertelorism, flat nasal bridge, and upslanting palpebral fissures underdeveloped genitalia, hypergonadotropichypogonadism, 20 to 60 Table 2. [intechopen.com]

• Impulsivity

  Limb dysmetria Abnormal facial shape Encephalopathy Hyperactivity Autism EEG abnormality Abnormal head movements Mydriasis Attention deficit hyperactivity disorder Akinesia Neoplasm Aggressive behavior Parkinsonism Fasciculations Apathy Postural tremor Impulsivity [mendelian.co]

  Children with Prader-Willi syndrome are often quiet in childhood but develop stubborn, aggressive, or impulsive patterns of behavior as they grow older. [minddisorders.com]

  The most frequent diagnosis in the medical record was behavioral disorder in 30 cases (46.15%), followed by impulse control disorder and schizophrenia; Axis I diagnosis was not stated in 26 cases (40%); there were a total of 54 different diagnoses, some [scielo.org.co]

  They have also high scores in externalising symptoms secondary to attention deficit disorder, disinhibition and impulsivity, but also at internalising symptoms – shyness, anxiety and depression. [intechopen.com]

• Aggressive Behavior

  behavior Parkinsonism Fasciculations Apathy Postural tremor Impulsivity Resting tremor Motor axonal neuropathy Cogwheel rigidity Dysgraphia Scanning speech Intermittent microsaccadic pursuits Microsaccadic pursuit Type II diabetes mellitus Oculomotor [mendelian.co]

  He also had a depressed affect, aggressive behavior and psychomotor retardation. Another child had psychomotor retardation, microcephaly, growth deficiency, spasticity and dystonia. [massgeneral.org]

  behavior; Autistic features MISCELLANEOUS: Hairy elbows become apparent in infancy and regress during adolescence; Facial appearance becomes more apparent with age MOLECULAR BASIS: Caused by mutation in the myeloid/lymphoid or mixed lineage leukemia [findzebra.com]

• Short Attention Span

  They often are restless and hyperactive and have a short attention span. Their developmental milestones, especially speech development, are delayed. After puberty, the characteristic phenotypical features may appear. [emedicine.medscape.com]

  attention span, delayeddevelopment of speech DISORDERS OF AMINO ACID METABOLISM A condition in which the body cannot break down several amino acids in protein foods and cannot get rid of ammonia, which has a toxic impact Arginase Deficiency Developmental [intechopen.com]

• Mood Swings

  Bipolar Disorder - A mental illness characterized by severe mood swings: high energy/invincibility to deep depression/ despair. Also (formerly) called Manic Depression. MZ:DZ concordance values (high:low) indicate genetics is a major player. e. [projects.ncsu.edu]

• Ataxia

  Top matches: High match SPINOCEREBELLAR ATAXIA TYPE 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). [mendelian.co]

  TABLE 451e-1 Classification of the Spinocerebellar Ataxias (SCA) View Table Favorite Table Download (.pdf) TABLE 451e-1 Classification of the Spinocerebellar Ataxias (SCA) Name Locus Phenotype SCA1 (autosomal dominant type 1) 6p22-p23 with CAG repeats [accessmedicine.mhmedical.com]

  Pure spastic paraplegia was present in the earliest generation; subsequent generations had ataxia and mental retardation. MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. [neurology.org]

  Friedrich's Ataxia Friedrich's ataxia is an autosomal recessive condition which results in nerve degeneration in the spinal cord, usually presenting before the age of 25 with muscle weakness, loss of co-ordination and a staggering gait. [diapedia.org]

  X linked ataxia-deafness-optic atrophy syndrome 14 could be excluded on clinical grounds. [jmg.bmj.com]

• Generalized Tonic-Clonic Seizure

  Seizures are common; all types of seizures (absence, generalized tonic-clonic seizures, myoclonic, and focal seizures) have been reported. Most subjects have a happy demeanor with frequent smiling and a sociable personality. [orpha.net]

  tonic-clonic seizures Inability to walk Tetraparesis Exotropia Spastic tetraparesis Athetosis Visceromegaly Abnormality of the skeletal system Vacuolated lymphocytes Oligosacchariduria Aspartylglucosaminuria Short stature Cataract Gait disturbance Absent [mendelian.co]

  The third had global developmental delay, broad-based gait, bruxism, drooling, cortical visual impairment, bilateral ptosis, coarse and curly hair, hearing impairment, and generalized tonic-clonic seizures. [findzebra.com]

• Apraxia

  Hemiparesis Continuous spike and waves during slow sleep Language impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia Stuttering If you liked this article maybe you will also find interesting [mendelian.co]

Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping [books.google.com]

Many will go undiagnosed until maturity as adults undergoing infertility workups. Fetuses are typically identified during amniocentesis performed for advanced maternal age. They are not normally identified because of an abnormal ultrasound finding. [chw.org]

[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]

It thereby offers an effective option for extensive genetic testing early in the diagnostic workup for children with developmental disorders. [journals.plos.org]

Treatment Treatment Options: Visually significant cataracts may be removed. [disorders.eyes.arizona.edu]

Other: Standard Standard Other Name: Treatment of hypertension, cyst infections and flank pain Active Comparator: 2 Sirolimus plus Standard Treatment Drug: Sirolimus Standard plus Sirolimus Other Name: Rapamune (R) Primary Outcome Measures : renal volume [clinicaltrials.gov]

Identification and treatment of this disorder can be extremely rewarding because patients often benefit greatly with directed treatment of the associated dopamine deficiency state. [massgeneral.org]

Also, the effect of treatment at 1-year remains elusive on the long term. [dovepress.com]

Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only. [orpha.net]

Course and prognosis The clinical course of the syndrome is characterized by persistent or recurrent episodes of cholestasis triggered by common respiratory infections, especially during the first years of life. [nlc-bnc.ca]

The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis. [genome.jp]

Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency. [eyewiki.aao.org]

Etiology : Autosomal dominant inheritance in some cases [6]. Pathogenesis : unknown. [sonoworld.com]

Etiology The perspective of disease etiology can provide beneficial and critical clinical data for diagnostic, prognostic, concept, and convert to treatment. [genecelltissue.com]

The secondary etiology is due to underlying diseases, with no mental deficiency. [scielo.org.co]

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

Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]

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

Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum. [orpha.net]

Until the advent of epidemiological studies, this question had been difficult to answer. [acnp.org]

Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351. [karger.com]

X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology [books.google.com]

Neurotic symptoms are reported to be mainly associated with this syndrome. 3 The exact pathophysiological mechanism underlying the association of psychotic symptoms with CADASIL syndrome is not clearly understood. [gpsych.bmj.com]

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. A., Kuss A. [degruyter.com]

Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14 (6):701-13. doi: 10.1038/sj.ejhg.5201595. [PubMed: 16721406 ]. 52 Humeau Y, Gambino F, Chelly J, Vitale N. [genecelltissue.com]

[…] contractures Orthopedic appliances and surgical procedures to improve mobility Special education to help with motor problems and intellectual involvement Prevention is great challenge Prevention of kernicterus by phototherapy has helped Providing low-birth [en.wikibooks.org]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation. [iofbonehealth.org]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]