A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is caused by mutation in the gene encoding the procollagen protease ADAMTS2 (604539) on chromosome 5q35. ... Pathogenesis Minor et al. (1986) examined cell lines from 3 new Ehlers-Danlos syndrome variants showing decreased processing of procollagen. ... Nomenclature Nusgens et al. (1992) referred to this disorder as Ehlers-Danlos syndrome type VIIC, reserving EDS VIIA and EDS VIIB for the disorders resulting from defects in the procollagen alpha-1 and alpha-2 polypeptides, respectively.
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.
Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract.
The association of deafness and cataracts with the same natural history as that in the proband was documented in at least 6 members of 5 different sibships in 4 generations with 3 instances of male-to-male transmission of the full syndrome. Progressive deafness was said to have been present in 9 other individuals although the presence of cataracts was incompletely determined. ... Cochleosaccular dysplasia was the abnormality observed in the syndrome of deafness with diverticula of the small bowel and progressive sensory neuropathy (221400).
Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction.
Zankl et al. (2004) raised the possibility that odontotrichomelic syndrome might be present in the patient they reported with ectodermal dysplasia affecting hair, teeth, and nails and malformations of all 4 extremities, including absence of several rays in the hands and feet. ... They thought that a mutation in the PVRL1 gene (600644), which is mutant in the Margarita Island type of ectodermal dysplasia/Zlotogora-Ogur syndrome (see 225060), a recessive disorder, was a possibility.
Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies.
Tuomaala and Haapanen (1968) described a Finnish family in which 2 sisters and a brother had an identical syndrome of congenital anodontia, small maxilla giving an impression of mandibular prognathism, short stature with particular shortening of the metacarpals and metatarsals, little hair growth, albinoidism, and multiple ocular abnormalities including strabismus, nystagmus, distichiasis, lenticular opacities, and high-grade myopia.
Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
MacDermot and Winter (1989) described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development.
Glass and Gorlin (1979) described a brother and sister with congenital profound sensorineural deafness and oligodontia. Certain of the permanent incisors, premolars, and molars were absent in both. Parental consanguinity was denied. The authors concluded that the disorder reported by Lee et al. (1978) may be distinct. INHERITANCE - Autosomal recessive HEAD & NECK Ears - Bilateral congenital profound sensorineural hearing loss Mouth - Diastema Teeth - Oligodontia ▲ Close
Houlston et al. (1992) described 2 sisters with mental retardation, microcephaly, marfanoid habitus, and glomerulonephritis. Microcephaly, present at birth, was associated in both with prominent fourth ventricles by computerized tomographic scans, but no other cerebral anomalies. Both had relatively tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity. One also had dorsal kyphosis. In both, glomerulonephritis was diagnosed during the second decade. Mental retardation was moderate in severity (IQs 48 and 50). Renal failure necessitated dialysis and transplantation.
Proposed biological phenomenon Reduction in size is regarded as a domestication syndrome trait - grey wolf skull compared with a chihuahua skull Domestication syndrome refers to a number of phenotypic traits that appear in many domesticated animals . These also appeared in the domesticated silver fox that is the result of Dmitry Belyayev 's breeding experiment. [1] These traits may include floppy ears, variations to coat colour, a smaller brain, and a shorter muzzle. [1] Origin [ edit ] In ten publications on domestication syndrome in animals, no single trait is included in every one. [2] Charles Darwin ’s study of The Variation of Animals and Plants Under Domestication in 1868 identified behavioural, morphological, and physiological traits that are shared by domestic animals, but not by their wild ancestors. These shared traits became known as the domestication syndrome. [3] These traits include tameness, docility, floppy ears, altered tails, novel coat colours and patterns, reduced brain size, reduced body mass and smaller teeth. [3] [4] Other traits include changes in craniofacial morphology, alterations to the endocrine system, and changes to the female estrous cycles including the ability to breed all year-round. [4] Research indicates that neural crest cells may have been modified by domestication, which then led to those traits that are common across many domesticated animal species. [1] Challenge [ edit ] In 2015, canine researcher Raymond Coppinger found historical evidence that Belyayev's foxes originated in fox farms on Prince Edward Island and had been bred there for fur farming since the 1800s, and that the traits demonstrated by Belyayev had occurred in the foxes prior to the breeding experiment. [5] In 2019, a further study found that the results of the "Farm fox experiment" had been overstated, based on historical records and DNA analysis. This finding questions the existence of domestication syndrome in animals and suggests that other theories need to be considered, including adaptations to a human-modified environment. [2] Although the soundness of the domestication syndrome, and the extent to which the Belyaev experiment could be used as evidence to support its existence, has been questioned, the hypothesis that neural crest genes underlie some of the phenotypic differences between domestic and wild horses and dogs is supported by the functional enrichment of candidate genes under selection. [1] References [ edit ] ^ a b c d Frantz, Laurent A. ... "The History of Farm Foxes Undermines the Animal Domestication Syndrome" . Trends in Ecology & Evolution . 35 (2): 125–136. doi : 10.1016/j.tree.2019.10.011 .
The immunodeficiency has been associated with some clinical disorders including recurrent infections, atopy , Bloom's syndrome , celiac disease , systemic lupus erythematosus and malignancy, but, surprisingly, SIgMD seems to also occur in asymptomatic individuals. [2] High incidences of recurrent upper respiratory tract infections (77%), asthma (47%) and allergic rhinitis (36%) have also been reported. [3] SIgMD seems to be a particularly rare antibody deficiency with a reported prevalence between 0.03% (general population) and 0.1% (hospitalized patients). [2] The cause of selective IgM deficiency remains unclear, although various mechanisms have been proposed, such as an increase in regulatory T cell functions, defective T helper cell functions and impaired terminal differentiation of B lymphocytes into IgM-secreting cells among others. [2] In addition it was recently described that hypomorphic mutations in the B-cell receptor (BLNK & BTK) lead to selective IgM deficiency. [4] It is however puzzling that class switching seems to happen normally (serum levels of other antibodies are normal), while dysfunctioning of IgM synthesis is expected to occur together with abnormalities in other immunoglobulins. ... External links [ edit ] Classification D ICD - 10 : D80.4 ICD - 9-CM : 279.02 External resources eMedicine : med/3436 v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency
It may occur in some people with chromosome disorders such as 22q11.2 deletion syndrome . There are no official treatment recommendations since information about SIgMD is limited.
A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
Relevant discussion may be found on the talk page . ( March 2020 ) ( Learn how and when to remove this template message ) Death-grip and death-grip syndrome are slang terms for suffering from one’s aggressive and recurrent male masturbation technique, resulting in not be able to get satisfaction in regular intercourse with a partner. A similar condition, dead-vagina syndrome has been asserted to exist in women. [1] [2] [3] Contents 1 Concept 2 Perception 3 See also 4 References Concept [ edit ] Death-grip syndrome, sometimes abbreviated as DGS, was arguably coined in 2003 by sex columnist Dan Savage and is an issue that affects both men and women. [3] However, others [ who? ] have attributed it to normal masturbation that is excessive. [4] For women the slang term used is "dead vagina syndrome." [1] [2] Although men with the indisposition may still experience an erection , it may embroil a relationship negatively due to a sense of being sexually incompatible with a partner due to the habit of lasting too long during sexual activity, and subsequent side-effects such as blue balls or inhibited ejaculation . [5] Some people who have claimed to "experience the death-grip" state that although they can still experience pleasure, the typical vagina feels too loose, and fellatio provides insufficient friction to produce an orgasm. [6] Richard Santucci, chief of urology at Detroit Receiving Hospital 's Center for Urologic Reconstruction, believes that "too strong masturbation" is not a common cause of delayed ejaculation, and states that " diabetes , medications , low testosterone , anxiety " are the common causes. [7] Perception [ edit ] The concept of death-grip syndrome is not recognized by any mainstream medical bodies. [8] Some analysts [ who? ... Retrieved 2020-03-08 . ^ a b Scott, Ellen (2017-12-13). "Is dead vagina syndrome a real thing?" . Metro . Retrieved 2020-03-08 . ^ a b Barrett-Ibarria, Sofia (22 March 2018). "Women Get 'Death Grip Syndrome' Too, and It Sucks" . Vice . ^ Cummins, Eleanor (2017-06-15).
FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, b ifid n ose with or without a norectal and r enal anomalies (BNAR syndrome), and isolated c ongenital a nomalies of k idney and u rinary t ract (CAKUT). ... Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). ... Growth and development. Individuals with MOTA syndrome assessed at various ages appear generally healthy with age-appropriate growth and cognition. ... B ifid N ose with or without A norectal and R enal Anomalies (BNAR) Syndrome BNAR syndrome was described by Al-Gazali et al [2002] and Alazami et al [2009] in ten individuals from three consanguineous families of Egyptian, Afghani, and Pakistani origin. ... Differential Diagnosis The following disorders should be considered in the differential diagnosis of Manitoba oculotrichoanal (MOTA) syndrome and b ifid n ose with or without a norectal and r enal anomalies (BNAR) syndrome (Table 2).
White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
A number sign (#) is used with this entry because of evidence that hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) is caused by heterozygous mutation in the SOX18 gene (601618) on chromosome 20q13. Biallelic mutations in the SOX18 gene result in hypotrichosis-lymphedema-telangiectasia syndrome (HLTS; 607823), which has overlapping features with HLTRS. Description Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).
Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension.
Avasthey and Roy (1968) reported a woman with lymphedema of the feet beginning in her teens and a cerebrovascular anomaly indicated by a loud systolic bruit over the temples and transmitted down the carotids. A son, aged 20 years, likewise had foot lymphedema and a cranial bruit and by angiogram a large extracranial arteriovenous malformation over the parietal region. Two other sons had lymphedema, cerebrovascular malformation, and primary pulmonary hypertension. One son was normal and the only daughter had lymphedema of both feet and bilateral temporoparietal bruit. Head - Cranial bruit Vascular - Cerebrovascular anomaly Inheritance - Autosomal dominant Pulmonary - Primary pulmonary hypertension Skin - Lymphedema of feet ▲ Close
Lubinsky (1983) reported the cases of 3 brothers with cataracts (appearing in adolescence) and infertility. Elevated follicle-stimulating hormone (FSH) levels suggested testicular failure. The parents were second cousins of German Mennonite ancestry. Hypogonadism and cataracts occur with several other disorders, e.g., myotonic dystrophy, which could be excluded. Eyes - Cataracts GU - Hypogonadism - Infertility - Testicular failure Lab - Elevated follicle-stimulating hormone (FSH) levels Inheritance - Autosomal recessive ▲ Close
Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia.
Clinical Features Maclean et al. (1986) described father and daughter with a seemingly novel combination of clinical findings including persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae, and campomelia. According to photographs, the grandfather, who was 161 cm tall, appeared to be affected also. At birth, the daughter (the proposita) was hypotonic with bilateral dislocated wrists, dislocatable left hip, and bilateral femoral and tibial bowing with dimples at the apex of the bow. The father had sloping shoulders, could approximate the shoulder abnormally, and had prominent upward bowing of the clavicles laterally on chest x-ray. Although the disorder falls into the large general category of osteogenesis imperfecta, the author could not precisely categorize it and therefore called it by the family name.
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
The neuropathologic findings suggested Roussy-Levy syndrome (180800). See Berman et al. (1974) and 208850 for a similar disorder. Inheritance The transmission pattern of the ataxia-deafness-mental retardation syndrome in the family reported by Richards and Rundle (1959) was consistent with autosomal recessive inheritance.