Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases.
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Clausen (1921) described affected brother and sister who had, respectively, 2 affected sons and 2 affected daughters. Davenport (1927) described mother and son. Phillips (1970) gave a review. This should be considered agenesis, not coloboma (Maumenee, 1982). Eyes - Agenesis of macula - Coloboma of macula Inheritance - Autosomal dominant ▲ Close
Renal manifestations include proteinuria that can progress to nephrotic syndrome and end-stage renal disease. Diagnosis/testing. The diagnosis of AMRF syndrome is suspected in a previously healthy teenager or young adult with the characteristic neurologic and/or renal manifestations. ... Renal Disease Mild proteinuria may progress to nephrotic syndrome and ultimately to renal failure (Table 2). ... Differential Diagnosis At the onset of the disease, three non-progressive conditions should be considered in the differential diagnosis: Cortical tremor syndrome. At the onset of fine tremor, cortical tremor syndrome (see Epilepsy, familial adult myoclonic: OMIM Phenotypic Series) should be considered [Ikeda et al 1990, Brown 2004]. ... It usually has a favorable outcome. Cortical tremor syndrome is inherited in an autosomal dominant manner in the majority of families.
"Penile size and the 'small penis syndrome ' " . BJU International . 99 (6): 1449–1455. doi : 10.1111/j.1464-410x.2007.06806.x . ... The Culture-bound syndromes: Folk Illnesses of Psychiatric and Anthropological Interest . ... "A case of urethrocutaneous fistula with the koro syndrome". J Urol . 164 : 123. doi : 10.1016/s0022-5347(05)67465-4 . ^ Brock Gerald; et al. (1997). ... (January, 1989). "Koro" (genital retraction syndrome): Psychotherapeutic interventions. ... (December 2006), "From Peculiar Psychiatric Disorders through Culture-bound Syndromes to Culture-related Specific Syndromes" , Transcultural Psychiatry , 43 (4): 554–576, doi : 10.1177/1363461506070781 , PMID 17166946 ^ Chowdhury, A.
The condition is part of a larger group of thiamine deficiency disorders, that includes beriberi in all its forms, and alcoholic Korsakoff syndrome . When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome . [2] [3] Classically, Wernicke encephalopathy is characterised by the triad – ophthalmoplegia , ataxia , and confusion . ... In patients with Wernicke-Korsakoff syndrome, even higher doses of parenteral thiamine are recommended. ... "The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?" . ... "[Beneficial effect of steroid pulse therapy on Wernicke-Korsakoff syndrome due to hyperemesis gravidarum]". ... "[Beneficial effect of steroid pulse therapy on Wernicke-Korsakoff syndrome due to hyperemesis gravidarum]".
ICD-10 still includes somatization syndrome. [14] Proposed disorders [ edit ] Additional proposed somatic symptom disorders are: Abridged somatization disorder [15] – at least four unexplained somatic complaints in men and six in women Multisomatoform disorder [6] – at least three unexplained somatic complaints from the PRIME-MD scale for at least two years of active symptoms These disorders have been proposed because the recognized somatic symptom disorders are either too restrictive or too broad. ... History [ edit ] Somitisation disorder was first described by Paul Briquet in 1859 and was subsequently known as Briquet's syndrome. He described patients who had been sickly most of their lives and complained of multiple symptoms from different organ systems. Symptoms persist despite multiple consultations, hospitalisations and investigations. [25] See also [ edit ] Hypochondriasis Hysteria Medically unexplained physical symptoms Munchausen syndrome Nocebo Psychosomatic medicine References [ edit ] ^ a b (2013) " Somatic Symptom Disorder Fact Sheet Archived 2013-11-02 at the Wayback Machine " dsm5.org. ... The British Journal of Psychiatry. 2012;200(1):60-7. ^ "Briquet's Syndrome (somatization disorder, DSM-IV- TR #300.81)" (PDF) . Classification D ICD - 10 : F45 ICD - 9-CM : 300.8 MeSH : D013001 DiseasesDB : 1645 External resources eMedicine : med/3527 v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy Authority control GND : 4237448-0 LCCN : sh85124779 NDL : 01110308
Typical causes of this damage are trauma (such as a traffic collision , diving into shallow water, a fall, a sports injury), disease (such as transverse myelitis , Guillain–Barré syndrome , multiple sclerosis , or polio ), or congenital disorders (such as muscular dystrophy ). ... Find sources: "Tetraplegia" – news · newspapers · books · scholar · JSTOR ( September 2018 ) ( Learn how and when to remove this template message ) Incomplete spinal cord injuries result in varied post injury presentations. There are three main syndromes described, depending on the exact site and extent of the lesion. Central cord syndrome : most of the cord lesion is in the gray matter of the spinal cord, sometimes the lesion continues in the white matter. [4] Brown-Séquard syndrome : hemisection of the spinal cord. [4] Anterior cord syndrome : a lesion of the anterior horns and the anterolateral tracts, with a possible division of the anterior spinal artery. [4] For most patients with ASIA A (complete) tetraplegia, ASIA B (incomplete) tetraplegia and ASIA C (incomplete) tetraplegia, the International Classification level of the patient can be established without great difficulty. ... Quadriplegia is the common term in North America; tetraplegia is more commonly used in Europe. [11] See also [ edit ] Clearing the cervical spine Hemiplegia Locked-in syndrome Sexuality after spinal cord injury Spinal cord injury research References [ edit ] Citations [ edit ] ^ Schurch et al. 2011 . sfn error: no target: CITEREFSchurch_et_al.2011 ( help ) ^ a b Roberts et al. 2017 . ^ a b c Coulet et al. 2002 . ^ a b c d e f g h Hentz & Leclercq 2008 . ^ Fridén & Reinholdt 2008 . ^ Burkeman 2002 . ^ Gorgey et al. 2012 . ^ a b NSCISC 2018 . ^ Christopher & Dana Reeve Foundation . ^ NSCISC 2009 . ^ Apparelyzed . ... Tetraplegia at Curlie Classification D ICD - 10 : G82.5 ICD - 9-CM : 344.0 MeSH : D011782 External resources MedlinePlus : 001066 GeneReviews : NBK344254 v t e Neurotrauma Traumatic brain injury Intracranial hemorrhage Intra-axial Intraparenchymal hemorrhage Intraventricular hemorrhage Extra-axial Subdural hematoma Epidural hematoma Subarachnoid hemorrhage Brain herniation Cerebral contusion Cerebral laceration Concussion Post-concussion syndrome Second-impact syndrome Dementia pugilistica Chronic traumatic encephalopathy Diffuse axonal injury Abusive head trauma Penetrating head injury Spinal cord injury Anterior spinal artery syndrome Brown-Séquard syndrome Cauda equina syndrome Central cord syndrome Paraplegia Posterior cord syndrome Spinal cord injury without radiographic abnormality Tetraplegia (Quadriplegia) Peripheral nerves Nerve injury Peripheral nerve injury classification Wallerian degeneration Injury of accessory nerve Brachial plexus injury Traumatic neuroma v t e Symptoms and signs relating to movement and gait Gait Gait abnormality CNS Scissor gait Cerebellar ataxia Festinating gait Marche à petit pas Propulsive gait Stomping gait Spastic gait Magnetic gait Truncal ataxia Muscular Myopathic gait Trendelenburg gait Pigeon gait Steppage gait Antalgic gait Coordination Ataxia Cerebellar ataxia Dysmetria Dysdiadochokinesia Pronator drift Dyssynergia Sensory ataxia Asterixis Abnormal movement Athetosis Tremor Fasciculation Fibrillation Posturing Abnormal posturing Opisthotonus Spasm Trismus Cramp Tetany Myokymia Joint locking Paralysis Flaccid paralysis Spastic paraplegia Spastic diplegia Spastic paraplegia Syndromes Monoplegia Diplegia / Paraplegia Hemiplegia Triplegia Tetraplegia / Quadruplegia General causes Upper motor neuron lesion Lower motor neuron lesion Weakness Hemiparesis Other Rachitic rosary Hyperreflexia Clasp-knife response Authority control NARA : 10648008
GPR56 mutation also can cause a severe encelphalopathy which is associated with electro clinical features of the Lennox-Gastaut syndrome . Lennox-Gastaut syndrome can be cryptogenic or symptomatic, but the symptomatic forms have been associated with multiple etiologies and abnormal cortical development. ... The presence of consanguinity in a child's parents may suggest an autosomal recessive familial polymicrogyria syndrome. Physical examination A general physical examination of the proband may identify associated craniofacial , musculoskeletal, or visceral malformations that could indicate a particular syndrome. ... Web. 05 Nov. 2012. < http://www.neuroscienceandgenetics.it/syndrome/bilateral-frontoparietal-polymicrogyria-bfpp >. ^ Bahi-Buisson, N., K. ... "Bilateral Frontoparietal Polymicrogyria, Lennox-Gastaut Syndrome, Andgene Mutations." Epilepsia 50.6 (2009): 1344-353. ... "Bilateral Frontoparietal Polymicrogyria (BFPP) Syndrome Secondary to a 16q12.1-q21 Chromosome Deletion Involving GPR56 Gene."
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
It appeared that other recognized causes of neuronal migration defects such as the Miller-Dieker syndrome (247200), the Norman-Roberts syndrome (257320), the Neu-Laxova (256520) and Joubert syndrome (213300) could be excluded on the basis of clinical and radiologic features.
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia , strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Mutation in TFAP2B also causes Char syndrome (CHAR; 169100), in which affected individuals exhibit facial dysmorphism and hand abnormalities in addition to patent ductus arteriosus (PDA). ... Clinical history and physical examination confirmed that no affected individuals exhibited the characteristic craniofacial or fifth finger anomalies of Char syndrome. Chen et al. (2011) reported 2 Chinese families segregating autosomal dominant isolated PDA. ... None of the patients exhibited features of Char syndrome. Molecular Genetics In 6 affected members of a consanguineous Kuwaiti family segregating autosomal dominant PDA, Khetyar et al. (2008) sequenced the TFAP2B gene and identified heterozygosity for a splice site mutation (601601.0008) that was not found in 6 unaffected family members. ... The authors noted that the same splice site mutation had previously been reported in a large family with Char syndrome (Mani et al., 2005), and stated that the reasons for differences in expression patterns remained unclear.
A number sign (#) is used with this entry because of evidence that this phenotype is caused by malsegregation of a t(8;22)(q24.13;q11.2) translocation, one of only a few recurrent non-Robertsonian constitutional translocations in humans. See also Emanuel syndrome, 609029. Description Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). ... Clinical Features Sheridan et al. (2010) described 11 patients from 9 families with a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a recurrent palindrome-mediated rearrangement, t(8;22)(q24.13;q11.21). ... Similar to the t(11;22) translocation (see Emanuel syndrome, 609029), nondisjunction of the t(8;22) occurred during both male and female meiosis.
'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). ... Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). ... See also chromosome 13q14 deletion syndrome (613884) in which retinoblastoma and mental retardation are features. ... INHERITANCE - Isolated cases - Multifactorial NEUROLOGIC Central Nervous System - Mental retardation in 75% - Seizures in 15-30% - EEG abnormalities in 20-50% Behavioral Psychiatric Manifestations - Impaired social interactions - Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures - Impaired ability to form peer relationships - Impaired language development - Lack of spontaneous play - Restrictive behavior, interests, and activities - Stereotyped, repetitive behavior - Inflexible adherence to routines or rituals LABORATORY ABNORMALITIES - Increased serum serotonin in 25% MISCELLANEOUS - Onset by 3 years of age - Male to female ratio 4:1 - Occurs in 2-5 per 10,000 individuals - Genetic heterogeneity (see 209850 ) - Associated with tuberous sclerosis ( 191100 ) - Associated with untreated phenylketonuria ( 261600 ) - Associated with Fragile X syndrome ( 300624 ) ▲ Close
A number sign (#) is used with this entry because HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is caused by mutation in the gene encoding pantothenate kinase-2 (PANK2; 606157). ... Orrell et al. (1995) described a second case of HARP syndrome in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. ... The patient's sister and mother had a similar lipid disorder and acanthocytosis, but no neurologic or retinal disease. The authors noted that HARP syndrome shares many clinical and radiographic features with PKAN, including the 'eye of the tiger' sign, but is distinguished by a specific lipoprotein abnormality. ... This finding established that HARP is part of the PKAN disease spectrum. In a patient with HARP syndrome initially reported by Orrell et al. (1995), Houlden et al. (2003) identified compound heterozygosity for mutations in the PANK2 gene: a met327-to-thr substitution (M327T; 606157.0012) and a splice site mutation (606157.0013).
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. ... A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration.
Nizon et al. (2012) described 2 unrelated Turkish patients with a Catel-Manzke syndrome (616145)-like phenotype, 1 of whom was a male infant originally reported by Kiper et al. (2011), in whom they identified homozygous loss-of-function mutations in the IMPAD1 gene. ... Inheritance Kiper et al. (2011) reported a male infant, born to consanguineous Turkish parents, with classic features of Catel-Manzke syndrome (616145) as well as ligamentous laxity in the knees. Two previously born female sibs of the patient, one of whom died at birth and the other at postnatal day 13, also had features of the syndrome. Consanguinity and possibly affected sibs led the authors to suggest autosomal recessive inheritance. ... In 2 unrelated Turkish patients with a Catel-Manzke syndrome (616145)-like phenotype and knee joint laxity, 1 of whom was the male infant originally reported by Kiper et al. (2011), Nizon et al. (2012) identified homozygosity for loss-of-function mutations in the IMPAD1 gene (614010.0003 and 614010.0004).
Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Other hereditary renal diseases are frequently associated with hypomagnesemia such as salt losing tubulopathies: classic Bartter syndrome, Gitelman syndrome, EAST syndrome, renal cysts and diabetes syndrome and autosomal dominant hypocalcemia (see these terms).
Diagnostic methods Diagnosis is made by demonstrating the renal Fanconi syndrome with the presence of low molecular weight proteinuria (and phosphaturia or glycosuria, if present) along with a monoclonal gammopathy.
A patient receiving prolonged parenteral nutrition acquired a syndrome described as ‘acquired molybdenum deficiency.’ This syndrome, exacerbated by methionine administration, was characterized by high blood methionine, low blood uric acid, and low urinary uric acid and sulfate concentrations. ... External links [ edit ] Classification D ICD - 10 : E61.5 v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight This article about an endocrine, nutritional, or metabolic disease is a stub .