Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2017 ) Hapnes Boman Skeie syndrome Other names Extensor tendons of finger anomalies [1] This condition is inherited in an autosomal dominant manner Hapnes Boman Skeie syndrome is a rare genetic disorder in which subcutaneous angiolipomas form around the wrists, knees, and ankles. [2] The syndrome was first described by Sveln Hapnes et al. in 1980. [2] Hapnes Boman Skeie syndrome is also known as "anomalous insertion of extensor tendons of fingers". [3] This name derives from the condition that the tendons of the fingers are attached in such a way that the fingers cannot open or close normally.
Delusion that one is dead or non-existent Cotard's delusion Other names Cotard's syndrome, Walking Corpse Syndrome The neurologist Jules Cotard (1840–89) described "The Delirium of Negation" as a mental illness of varied severity. Specialty Psychiatry Cotard's delusion , also known as walking corpse syndrome or Cotard's syndrome , is a rare mental disorder in which the affected person holds the delusional belief that they are dead, do not exist, are putrefying , or have lost their blood or internal organs . [1] Statistical analysis of a hundred-patient cohort indicated that denial of self-existence is present in 45% of the cases of Cotard's syndrome; the other 55% of the patients presented with delusions of immortality . [2] In 1880, the neurologist Jules Cotard described the condition as Le délire des négations ("The Delirium of Negation"), a psychiatric syndrome of varied severity. ... Cotard's syndrome exists in three stages: (i) Germination stage: symptoms of psychotic depression and of hypochondria appear; (ii) Blooming stage: full development of the syndrome and delusions of negation; and (iii) Chronic stage: continued severe delusions along with chronic psychiatric depression. [7] Cotard's syndrome withdraws the afflicted person from other people due to neglect of their personal hygiene and physical health. ... The underlying neurophysiology and psychopathology of Cotard syndrome might be related to problems of delusional misidentification. ... PMID 7648846 . ^ Berrios G.E.; Luque R. (1995). "Cotard Syndrome: Clinical Analysis of 100 Cases".
Overview Alpha-gal syndrome is a type of food allergy. It makes people allergic to red meat and other products made from mammals. ... Causes Most people with alpha-gal syndrome in the U.S. get the condition when a Lone Star tick bites them. ... Prevention The best way to prevent alpha-gal syndrome is to avoid areas where ticks live. ... You can lower your risk of getting alpha-gal syndrome by following some simple tips: Cover up. ... Symptoms of alpha-gal syndrome may lessen or even disappear over time.
However an unforeseen effect of the subsequent rise in the bandicoot population was the rise in ticks, as bandicoots are a major host for ticks, and thus the number of humans suffering tick bites. [38] Alpha-gal allergies are similar to pork–cat syndrome , hence misidentification can occur. Pork–cat syndrome usually elicits an immediate allergic response, while a true alpha-gal allergy typically features a delayed allergic reaction of 3 to 8 hours after ingestion of the allergen. [39] See also [ edit ] Poultry allergy Pork–cat syndrome References [ edit ] ^ Catalyst ( ABC-TV program) first aired 8 November 2016 ^ Commins SP, Platts-Mills TA (February 2013). ... Retrieved March 24, 2014 . ^ a b " ' Alpha-Gal' Syndrome" . Cornell Cooperative Extension in Suffolk County . ... "Environmental and Molecular Drivers of the α-Gal Syndrome" . Frontiers in Immunology . 10 : 1210. doi : 10.3389/fimmu.2019.01210 . ... Retrieved 2019-03-08 . ^ Commins SP, Platts-Mills TA (October 2009). "Anaphylaxis syndromes related to a new mammalian cross-reactive carbohydrate determinant" .
Description A clustering of abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol (HDLC), high blood pressure, and elevated fasting glucose levels is sometimes called metabolic syndrome X (Reaven, 1988) or abdominal obesity-metabolic syndrome (Bjorntorp, 1991). The syndrome may affect nearly 1 in 4 U.S. adults and is considered a veritable epidemic (Ford et al., 2002). ... Other factors influencing the metabolic syndrome include age, smoking, alcohol, diet, and physical inactivity. Genetic Heterogeneity of Abdominal Obesity-Metabolic Syndrome AOMS2 (605572) has been mapped to chromosome 17p12. ... In both obese and nonobese women, IL10 levels were lower in those with than in women without the metabolic syndrome. These results showed that circulating levels of the antiinflammatory cytokine IL10 are elevated in obese women and that low IL10 levels are associated with the metabolic syndrome.
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots).
The combination of postaxial polydactyly and cardiac malformation should, perhaps, bring to mind this syndrome, in addition to the Ellis-van Creveld syndrome (225500) and the Kaufman syndrome (236700).
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency.
Sampath et al. (2011) stated that the collection of manifestations in this family appeared to be unique, and designated the syndrome HPPD, for hypertelorism, preauricular sinus, punctal pits, and deafness. Inheritance The large 5-generation African American pedigree studied by Sampath et al. (2011) presented a syndrome involving branchial cleft anomalies that segregated as an autosomal dominant trait with variable expression.
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia.
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth).
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss.
The identification of the fragile X syndrome (300624) provided an explanation for the mental retardation in the proband and no evidence of ataxia was identified; motor incoordination in this patient, then 59 years old, was no more pronounced than that seen in many patients with the fragile X syndrome of similar IQ and age.
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder.
Papular epidermal nevus with "skyline" basal cell layer syndrome (PENS) is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems.
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
Molecular Genetics Because agenesis of the corpus callosum and the distinctive facial features were reminiscent of FG syndrome (305450), Graham et al. (2003) analyzed DNA for markers linked to the FGS1 locus at Xq13-q21. ... It also was not found in the DNA from 410 control chromosomes or in the DNA from patients with mental retardation syndromes that map to this region, and was not found in patients with Opitz G/BBB syndrome (300000) in whom no mutation in MID1 (300552) had been detected.
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies.
A number sign (#) is used with this entry because of evidence that Ogden syndrome (OGDNS) is caused by mutation in the NAA10 gene (300013) on chromosome Xq28. Description Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. ... As young adults, both developed arrhythmias with long QT syndrome; 1 had 2 myocardial infarctions. ... Inheritance The transmission pattern of Ogden syndrome in the family reported by Rope et al. (2011) was consistent with X-linked recessive inheritance; the pattern in the family reported by Casey et al. (2015) suggested X-linked dominant inheritance as the carrier mother was mildly affected. ... In 2 young adult brothers, born of unrelated Irish parents, with a variant of Ogden syndrome, Casey et al. (2015) identified a hemizygous missense mutation in the NAA10 gene (Y43S; 300013.0005).
Ogden syndrome Other names Premature aging appearance-developmental delay-cardiac arrhythmia syndrome, N-terminal acetyltransferase deficiency Ogden Syndrome , also known as N-terminal acetyltransferase deficiency (NATD), [1] is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia , global developmental delays, cryptorchidism , and spontaneous cardiac arrhythmias . ... This severe genetic disorder has provisionally been named Ogden Syndrome, as this is the city where the first affected family resides. ... The existence of another family made this mutation a syndrome, and not something isolated. [2] References [ edit ] ^ Rope, A.F. (2011). ... PMID 21700266 . ^ a b c d "More news on Ogden Syndrome from AAAS | Utah Foundation For Biomedical Research" . ... "Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects" (PDF) .
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay.
Crouzon (1929) and Sarrouy et al. (1957) reported 2 pairs of sibs with congenital cerebellar hypoplasia. Norman and Urich (1958) noted parental consanguinity in an isolated case. Wichman et al. (1985) reported 3 pairs of affected sibs in unrelated families. All 6 presented within the first 6 months of life with delayed motor and language development. Mathews et al. (1989) also described autosomal recessive cerebellar hypoplasia.
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients.
Clinical Features Waaler and Aarskog (1980) reported a Norwegian family in which the mother had hydrocephalus, rib malformations, dysplasia of thoracic vertebrae and Sprengel anomaly, and each of her 3 daughters had 1 or more of these 4 features. The hydrocephalus (present in the mother and a daughter) was moderate and compensated spontaneously, making shunt operation unnecessary. Ferlini et al. (1995) reported a family in which a mother and her 3 daughters had delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, and skeletal anomalies consisting of brachydactyly and Sprengel anomaly. Inheritance Ferlini et al. (1995) raised the possibility X-linked dominant inheritance of this disorder, but an autosomal dominant pattern of inheritance could not be ruled out in this family or in the family reported by Waaler and Aarskog (1980). It may be noteworthy that the mother reported by Ferlini et al. (1995) had had a spontaneous male abortion and a neonatal death of a male offspring, the cause of death being unknown.
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia.
Clinical Features In a sister and brother, with healthy nonconsanguineous parents, Kopysc et al. (1985) observed an apparently new form of ectodermal dysplasia with normal sweating and fingernails. Features were hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis of trunk and limbs, and marked hyperopia (astigmatism also in the brother). INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Hyperopia Nose - Broad nasal bridge Teeth - Hypodontia - Abnormally shaped teeth - Conical crown form SKIN, NAILS, & HAIR Skin - Follicular hyperkeratosis (trunk and limbs) - Reticular hyperpigmentation (neck) - Normal sweating Nails - Normal nails Hair - Sparse, thin, brittle scalp hair - Pili annulati ▲ Close
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues.
Grozeva et al. (2014) noted that some of the features overlapped those observed in patients with the 3p25 microdeletion syndrome (613792), and that the SETD5 gene lies within the 3p25 critical region. However, 3p25 deletion syndrome was not suspected clinically in any of the 7 patients.
Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.