Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss.
A number sign (#) is used with this entry because of evidence that peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13. One such family has been reported. Clinical Features Choi et al. (2011) reported a large 5-generation Korean family with a complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals developed distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs were more severely affected than the upper limbs, and the muscle weakness first affected anterior leg muscles and later posterior leg muscles. Three older patients, around age 40 years, reported proximal weakness of the thigh muscles.
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
A number sign (#) is used with this entry because of evidence that radioulnar synostosis with amegakaryocytic thrombocytopenia-1 (RUSAT1) is caused by heterozygous mutation in the HOXA11 gene (142958) on chromosome 7p15. Description Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; 616738) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26. Clinical Features Thompson and Nguyen (2000) observed 2 families with autosomal dominant inheritance of radioulnar synostosis (see 179300) in association with amegakaryocytic thrombocytopenia. The fathers and all affected children in both families (2 of 3 in 1 family and both children in the other) had the same skeletal defect, proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm.
A number sign (#) is used with this entry because of evidence that radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26. Description Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432). Clinical Features Sugita et al. (2007) described a 1-year-old Japanese girl who presented with systemic petechiae at birth and was found to have thrombocytopenia. Bone marrow examination showed absence of megakaryocytes but was otherwise normal.
A number sign (#) is used with this entry because of evidence that Pierpont syndrome (PRPTS) is caused by heterozygous mutation in the TBL1XR1 gene (608628) on chromosome 3q26. Description Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. ... Burkitt Wright et al. (2011) noted that their identification of a female patient with Pierpont syndrome made X-linked recessive inheritance less likely. ... Cytogenetics In a 2.5-year-old boy with Pierpont syndrome, Oudesluijs et al. (2005) performed whole-genome microarray CGH but did not identify any abnormalities. In 7 patients with Pierpont syndrome, Burkitt Wright et al. (2011) performed routine karyotyping but did not find any abnormalities.
A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves.
A number sign (#) is used with this entry because nephrotic syndrome type 7 (NPHS7) and susceptibility to atypical hemolytic uremic syndrome-7 (AHUS7) are caused by homozygous or compound heterozygous mutation in the DGKE gene (601440) on chromosome 17q22. Description Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. ... In 1 family, the proband presented with nephrotic syndrome and renal insufficiency at age 2 years and died of meningitis a year later. ... In the third family, 3 sibs, including a pair of twins, presented with nephrotic syndrome at age 1.5 years, but none developed end-stage renal failure by ages 2 or 12 years. ... Lemaire et al. (2013) reported 13 patients from 9 unrelated families with onset of atypical hemolytic uremic syndrome within the first year of life.
It may affect an iris completely or only partially. Congenital Horner's syndrome [16] – sometimes inherited, although usually acquired Waardenburg syndrome [16] – a syndrome in which heterochromia is expressed as a bilateral iris hypochromia in some cases. ... "Treatment of glaucoma in children with Sturge-Weber syndrome". Journal of Pediatric Ophthalmology and Strabismus . 37 (1): 29–34. PMID 10714693 . ^ "Sturge-Weber syndrome: Definition and Much More from Answers.com" . ... "Clinical features of Chinese patients with Fuchs' syndrome". Ophthalmology . 113 (3): 473–80. doi : 10.1016/j.ophtha.2005.10.028 . ... "Ocular and systemic characteristics of Duane syndrome". Journal of Pediatric Ophthalmology and Strabismus . 30 (3): 178–83.
Whether hereditary heterochromia iridis ever exists independent of Horner syndrome (143000), Waardenburg syndrome (193500), or the piebald trait (172800) is not clear. ... Congenital (or at least connatal) Horner syndrome with associated heterochromia iridis can be produced by birth injury to the lower roots of the brachial plexus (Klumpke palsy). Byrne and Clough (1992) discussed the occurrence of hypochromia iridis following acquired Horner syndrome in a 40-year-old man who had suffered brachial plexus trauma in a motorcycle accident 23 years earlier.
Researchers believe that other genes or environmental factors also contribute to the development of this disorder. Type II 302060 TAZ Xq28 Barth syndrome (BTHS), 3-Methylglutaconic aciduria type II or Cardiomyopathy-neutropenia syndrome Mutations in the TAZ gene cause 3-methylglutaconic aciduria type II (Barth syndrome). ... Type III 258501 OPA3 19q13.2-q13.3 3-Methylglutaconic aciduria type III or Costeff syndrome [1] Mutations in the OPA3 gene cause 3-methylglutaconic aciduria type III. ... Fewer than 20 cases of 3-methylglutaconic aciduria type I have been reported. Barth syndrome is a common name for 3-methylglutaconic aciduria type II. The main features of Barth syndrome include a weakened and enlarged heart (dilated cardiomyopathy), recurrent infections due to low numbers of white blood cells (neutropenia), skeletal problems, and delayed growth. The incidence of 3-methylglutaconic aciduria type II is approximately 1 in 200,000 male infants. Costeff syndrome is another name for 3-methylglutaconic aciduria type III.
"Binge eating disorder and the night-eating syndrome". International Journal of Obesity . 20 (1): 1–6. PMID 8788315 . ^ Wal Jillon S. Vander (2012). "Night eating syndrome: A critical review of the literature". ... "A descriptive study of non-obese persons with night eating syndrome and a weight-matched comparison group" . ... "An exploratory study of the relationship between night eating syndrome and depression among college students". ... "Binge eating disorder and night eating syndrome: psychological and behavioral characteristics".
Unsourced material may be challenged and removed. Find sources: "Roemheld syndrome" – news · newspapers · books · scholar · JSTOR ( July 2011 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Roemheld syndrome Other names Roemheld-Techlenburg-Ceconi-Syndrome or Gastric-cardia Specialty Gastroenterology/cardiology Roemheld syndrome ( RS ), or gastrocardiac syndrome , [1] [2] [3] [4] or gastric cardiac syndrome [5] or Roemheld-Techlenburg-Ceconi-Syndrome [6] or gastric-cardia , [6] was a medical syndrome first coined by Ludwig von Roemheld (1871–1938) describing a cluster of cardiovascular symptoms stimulated by gastrointestinal changes. ... Determining the cause of Roemheld syndrome is still not an exact science. ... In Elsevier, there is no current research or publishing under the name Roemheld syndrome, and as a result many cases go undiagnosed. ... ROEMHELD, L.; Treatment of Gastrocardiac Syndrome ^ Hempen, Carl-Hermann; Fischer (MD.), Toni (2009-01-01). ... PMID 8818746 . ^ Sharma, Shekhar. "Roemheld Syndrome - Gastric Cardia" . roemheld-syndrome.com .
Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. ... When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome.
Alvarez' syndrome Specialty Gastroenterology Alvarez' syndrome is a medical disorder in which the abdomen becomes bloated without any obvious reason, such as intestinal gas . ... Alvarez in the late 1940s. [1] [2] [3] References [ edit ] ^ Alvarez' syndrome at Who Named It? ^ Alvarez WC (1947).
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. ... Genetic counseling All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.
Clinical Features Richieri-Costa and Guion-Almeida (1993) reported 2 unrelated girls with an MCA/MR syndrome of clinical anophthalmia, abnormal nares, central nervous system anomalies, and mental retardation. They referred to the condition as cerebrooculonasal syndrome. Guion-Almeida et al. (2000) reported 2 additional cases, one with and one without structural anomalies of the central nervous system and clinical anophthalmia, and both with abnormal nares. ... Guion-Almeida et al. (2007) reported on 13 new patients with cerebrooculonasal syndrome and reviewed 7 previously described cases. ... Kokitsu-Nakata et al. (2009) described the cerebrooculonasal syndrome in the first child of nonconsanguineous parents. ... Inheritance Guion-Almeida et al. (2000) suggested autosomal dominant inheritance for cerebrooculonasal syndrome because all reported cases have been sporadic and there is some evidence for advanced paternal age effect.
Kleine Levin syndrome is a rare disorder characterized by recurrent episodes of excessive sleep (hypersomnia) along with cognitive and behavioral changes. ... During an episode, people with Kleine Levin syndrome can also display abnormal behavior, such as excessive food intake (hyperphagia), irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive. ... The time between episodes varies. Kleine Levin syndrome primarily affects adolescent males, but it also affects females and individuals of other ages.
Description The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929). ... Arnulf et al. (2008) reviewed the clinical features of 108 patients with Kleine-Levin syndrome. The group mostly consisted of adolescent boys (76%), and the mean age at onset was 15.7 years. ... Among 30 unrelated patients with Kleine-Levin syndrome, Dauvilliers et al. (2002) observed that viral infections were the most frequent precipitating factor (70%). ... In 30 unrelated patients with Kleine-Levin syndrome, Dauvilliers et al. (2002) found an increased frequency of the HLA-DQB1*0201 allele (see 604305) (28.3% vs 12.5% in controls). ... Critchley (1962) reported 11 cases and suggested the eponym, Kleine-Levin syndrome. Pearce (2008) reviewed historical descriptions of Kleine-Levin syndrome.
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. ... Prognosis The prognosis is generally good, with most patients presenting less frequent and less severe episodes with advancing age and disappearance of the syndrome around 30-35 y old. During asymptomatic periods, around 20-30% of patients have mild difficulties focusing or remembering.
Kleine–Levin syndrome Other names Familial hibernation syndrome [1] Specialty Neurology Kleine–Levin syndrome ( KLS ) is a rare disorder characterized by persistent episodic hypersomnia and cognitive or mood changes. ... The severity of symptoms and the course of the syndrome vary between sufferers. Patients commonly have about 20 episodes over about a decade. ... M.; Farber, N.; Mignot, Emmanuel (2005). "Kleine–Levin Syndrome: a Systematic Review of 186 Cases in the Literature" . ... Gupta, Ravi; Lahan, Vivekananda; Srivastava, Malini (2011). "Kleine-Levin Syndrome and Idiopathic Hypersomnia: Spectrum Disorders" . ... Ramdurg, Santosh (2010). "Kleine–Levin Syndrome: Etiology, Diagnosis, and Treatment" .
Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. Epidemiology Prevalence is unknown but hepatic VOD is a rare disease. Endemic zones have been identified in which the disease is associated with the consumption of herbal tea containing pyrrolizidine alkaloids. Epidemics affecting several hundred individuals may occur after contamination of the harvest with these plants. Clinical description It affects children and adults. The clinical picture is characterized by painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2013 ) The wild man syndrome , also known as wild pig syndrome , is a culture-bound syndrome that affects the mental health of New Guinean males in which they become hyperactive , clumsy , kleptomaniacal , and conveniently amnesic ." [1] It is known in various languages of New Guinea as guria , longlong , or lulu . Man Gone Wild "Wild-pig syndrome is a socially constructed disorder with an emotion classification of the Gururumba tribe. ... Another important symptom found in all Wild Pig Syndrome cases is his treatment and attitude toward material objects. ... Evidence for this can be seen when comparing the physical symptoms of this condition with Wild Pig Syndrome. Treatments [ edit ] In most cases Wild Pig Syndrome will run its course, and no treatment is needed. ... Criticisms [ edit ] Some researchers have indicated that Wild Pig Syndrome typically occurs when a man cannot meet his financial obligations, so some critics see the syndrome as a scapegoat for the stress of reality, as creditors will work with an individual that has had a Wild Pig Syndrome attack.
It is thought that cortical deafness could be a part of a spectrum of an overall cortical hearing disorder. [3] In some cases, patients with cortical deafness have had recovery of some hearing function, resulting in partial auditory deficits such as auditory verbal agnosia. [3] [6] This syndrome might be difficult to distinguish from a bilateral temporal lesion such as described above. ... OCLC 297335127 . ^ a b c d Bogousslavsky, Julien (2001). Stroke Syndromes . Cambridge: Cambridge UP. pp. 153 . ^ a b c d Graham J, Greenwood R, Lecky B (October 1980). ... External links [ edit ] Classification D MeSH : D006313 v t e Disorders of hearing and balance Hearing Symptoms Hearing loss Excessive response Tinnitus Hyperacusis Phonophobia Disease Loss Conductive hearing loss Otosclerosis Superior canal dehiscence Sensorineural hearing loss Presbycusis Cortical deafness Nonsyndromic deafness Other Deafblindness Wolfram syndrome Usher syndrome Auditory processing disorder Spatial hearing loss Tests Hearing test Rinne test Tone decay test Weber test Audiometry pure tone visual reinforcement Balance Symptoms Vertigo nystagmus Disease Balance disorder Peripheral Ménière's disease Benign paroxysmal positional vertigo Labyrinthitis Labyrinthine fistula Tests Dix–Hallpike test Unterberger test Romberg's test Vestibulo–ocular reflex v t e Symptoms , signs and syndromes associated with lesions of the brain and brainstem Brainstem Medulla (CN 8, 9, 10, 12) Lateral medullary syndrome/Wallenberg PICA Medial medullary syndrome/Dejerine ASA Pons (CN 5, 6, 7, 8) Upper dorsal pontine syndrome/Raymond-Céstan syndrome Lateral pontine syndrome ( AICA ) (lateral) Medial pontine syndrome / Millard–Gubler syndrome / Foville's syndrome ( basilar ) Locked-in syndrome Internuclear ophthalmoplegia One and a half syndrome Midbrain (CN 3, 4) Weber's syndrome ventral peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Claude's syndrome Other Alternating hemiplegia Cerebellum Latearl Dysmetria Dysdiadochokinesia Intention tremor ) Medial Cerebellar ataxia Basal ganglia Chorea Dystonia Parkinson's disease Cortex ACA syndrome MCA syndrome PCA syndrome Frontal lobe Expressive aphasia Abulia Parietal lobe Receptive aphasia Hemispatial neglect Gerstmann syndrome Astereognosis Occipital lobe Bálint's syndrome Cortical blindness Pure alexia Temporal lobe Cortical deafness Prosopagnosia Thalamus Thalamic syndrome Other Upper motor neuron lesion Aphasia
Warmblood Fragile Foal Syndrome (WFFS) is a genetically induced disorder seen in horses . ... A genetic test for Warmblood Fragile Foal Syndrome Type 1 was made commercially available in 2013. ... "Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome" . BMC Veterinary Research . 11 : 12. doi : 10.1186/s12917-015-0318-8 . ... External links [ edit ] "Warmblood Fragile Foal Syndrome Type 1" . University of California/UCDavis.