A number sign (#) is used with this entry because it represents a contiguous gene syndrome on chromosome 3q13.31 (chr3:103.32-128.18 Mb). Description The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012). Patients with Primrose syndrome (PRIMS; 259050) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. Primrose syndrome is caused by mutation in the ZBTB20 gene (606025) on chromosome 3q13. ... Both boys exhibited characteristic facial dysmorphic features of 3q13.31 deletion syndrome, including downslanting palpebral fissures, full lower lip, and prominent ears, but neither had genital anomalies.
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate.
A number sign (#) is used with this entry because of evidence that spermatogenic failure-3 (SPGF3) is caused by heterozygous mutation in the SLC26A8 gene (608480) on chromosome 6p21. Description In spermatogenic failure-3, primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Clinical Features Dirami et al. (2013) studied 3 men with primary infertility and moderate to severe asthenozoospermia associated with mutations in the SLC26A8 gene. The first was a 44-year-old man who had low ejaculate volume and a frequency of sperm morphologic abnormalities moderately higher than normal, with 19% coiled tails and 63% abnormally shaped posterior sperm heads; he also had increased polymorphonuclear leukocytes.
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction.
Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently. Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis ), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood.
A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome-5 (MTDPS5) is caused by homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene (SUCLA2; 603921) on chromosome 13q14. ... For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). Clinical Features Elpeleg et al. (2005) reported a small Muslim pedigree with an autosomal recessive encephalomyopathy associated with mtDNA depletion. ... Brain MRI was suggestive of Leigh syndrome (256000). At age 7 years, she was severely retarded and had contractures of the knee and hip joints. ... Neuroimaging showed demyelination and central and cortical atrophy; some patients fulfilled the criteria for Leigh syndrome. Carrozzo et al. (2007) also reported 11 patients from 8 related families in the Faroe Islands with neonatal onset of encephalomyopathy. ... Population Genetics Ostergaard et al. (2007) estimated the incidence of the encephalomyopathic form of mtDNA depletion syndrome with methylmalonic aciduria in the Faroe Islands to be 1 in 1,700.
Many of these estimates were made prior to 1989, when Möller et al [1989] subdivided Usher syndrome into Usher syndromes type I and II, and before the recognition of Usher syndrome type III. ... Persons with Usher syndrome type II or Usher syndrome type III, who communicate orally and who are mainstreamed into regular schools, are not well represented in these estimates. ... Urinalysis abnormalities in Alport are clinically distinctive. PEX1 PEX6 Heimler syndrome (OMIM 234580, 616617) AR SNHL Retinal degeneration Enamel dysplasia & nail abnormalities Both Heimler syndrome & USH1 have hearing & visual loss, but Heimler syndrome also has a defect of the teeth in which the enamel is hypoplastic. ... AR = autosomal recessive; CMTX5 = Charcot-Marie-Tooth neuropathy X type 5; DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; ID = intellectual disability; MOI = mode of inheritance; OA = optic atrophy; RP = retinitis pigmentosa; SNHI = sensorineural hearing impairment; SNHL = sensorineural hearing loss; USH = Usher syndrome; XL = X-linked; USH1 = Usher syndrome type I; USH2 = Usher syndrome type II; USH3 = Usher syndrome type III 1. ... Viral infections, diabetic neuropathy, and syndromes involving mitochondrial defects (see Mitochondrial Disorders Overview) can all produce concurrent symptoms of hearing loss and retinal pigmentary changes that suggest Usher syndrome.
Buckley et al. (1972) described 2 male patients with features of Job syndrome as originally described by Davis et al. (1966). ... Osteoporosis and a propensity to bone fracture, referred to by Brestel et al. (1982) as 'osteogenesis imperfecta tarda,' was a recognized feature of hyper-IgE syndrome. Kirchner et al. (1985) also noted the association of hyper-IgE syndrome with osteoporosis and recurrent fractures. ... Lui and Inculet (1990) described a patient with presumed Job syndrome and recurrent lung abscess necessitating lung resection. ... The authors concluded that there is a recognizable face of Job syndrome. The study of Grimbacher et al. (1999) established that the hyper-IgE syndrome is a multisystem disorder. ... Nonimmunologic features of the hyper-IgE syndrome were present in all patients older than 8 years.
Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE , skin inflammation (dermatitis) and recurrent skin and lung infections. ... Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. ... Learn more about the genes associated with Autosomal dominant hyper-IgE syndrome STAT3 ZNF341 Inheritance Pattern AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Summary Clinical characteristics. STAT3 hyper IgE syndrome ( STAT3 -HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. ... Establishing the Diagnosis The diagnosis of STAT3 hyper IgE syndrome ( STAT3- HIES) is established in a proband with typical clinical findings and a heterozygous dominant-negative pathogenic variant in STAT3 identified by molecular genetic testing (see Table 1). ... Molecular Genetic Testing Used in STAT3 Hyper IgE Syndrome View in own window Gene 1 Method Proportion of Probands with a Pathogenic Variant 2 Detectable by Method STAT3 Sequence analysis 3 >99% 4 Gene-targeted deletion/duplication analysis 5 1 reported 6 1. ... Clinical Characteristics Clinical Description STAT3 hyper IgE syndrome ( STAT3 -HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several connective tissue and skeletal abnormalities. ... Nomenclature Dominant-negative pathogenic variants in STAT3 were identified as the cause of autosomal dominant hyper IgE syndrome (AD-HIES) and "Job syndrome" in 2007.
Shoulder impingement syndrome Other names Subacromial impingement, painful arc syndrome, supraspinatus syndrome, swimmer's shoulder, thrower's shoulder Shoulder joint Specialty Orthopedics , sports medicine Shoulder impingement syndrome is a syndrome involving tendonitis ( inflammation of tendons ) of the rotator cuff muscles as they pass through the subacromial space , the passage beneath the acromion . ... "Management of shoulder impingement syndrome and rotator cuff tears". Am Fam Physician . 57 (4): 667–74, 680–2. ... "Rotator cuff tendinopathy / subacromial impingement syndrome: Is it time for a new method of assessment?" ... (August 2014). "Subacromial impingement syndrome--effectiveness of physiotherapy and manual therapy". ... "Anterior acromioplasty for the chronic impingement syndrome in the shoulder: a preliminary report".
A disease in dogs White dog shaker syndrome (also known as idiopathic steroid responsive shaker syndrome , shaker dog syndrome and "little white shakers" syndrome ; Latin name Idiopathic Cerebellitis) causes full body tremors in small dog breeds. ... ISBN 0-7216-6795-3 . ^ "What is shaker dog syndrome?" . Canine Inherited Disorders Database .
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 18 (NPHS18) is caused by homozygous or compound heterozygous mutation in the NUP133 gene (607613) on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause Galloway-Mowat syndrome (GAMOS8; 618349). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Braun et al. (2018) reported 3 patients from 2 unrelated families (A2174 and F797) with onset of nephrotic syndrome between 4 and 10 years of age. ... INHERITANCE - Autosomal recessive GENITOURINARY Kidneys - Steroid-resistant nephrotic syndrome - Focal segmental glomerulosclerosis - Effacement of podocyte foot processes - End-stage renal disease LABORATORY ABNORMALITIES - Proteinuria MISCELLANEOUS - Onset in the first decade - Progressive disorder - Two unrelated families have been reported (last curated November 2018) MOLECULAR BASIS - Caused by mutation in the nucleoporin, 133-kD gene (NUP133, 607613.0001 ) ▲ Close
Clinical Features Toriello et al. (1993) described a possibly unique chondrodysplasia punctata syndrome with, in addition to stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata.
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata.
Clinical feature consisting of a congenital skin fold on the sides of the neck Webbed neck Other names Pterygium colli deformity A 12-year-old female with Noonan syndrome exhibiting a typical webbed neck. ... As the child grows, the skin may stretch out to look like there is little or no neck. [ citation needed ] Associated conditions [ edit ] It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome , [2] as well as the rarer Klippel–Feil syndrome , [3] or Diamond–Blackfan anemia [4] References [ edit ] ^ Miller LB, Kanter M, Wolfort F (1990). "Treatment of webbed neck in Turner's syndrome with tissue expansion". Ann Plast Surg . 24 (5): 447–50. doi : 10.1097/00000637-199005000-00009 . PMID 2350155 . ^ Qian JG, Wang XJ (2007). "Noonan syndrome and correction of the webbed neck". ... "Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel–Feil syndrome" . Cleft Palate Craniofac. J. 39 (3): 261–6. doi : 10.1597/1545-1569(2002)039<0261:MZPROW>2.0.CO;2 .
., significant change in diet, significant medical problem including illness or accident, delivery, systemic use of corticosteroids or valproate) History of recurrent vomiting Migraine headaches Reye-like syndrome Seizures History of true protein avoidance (avoidance of not only red meat but also of milk, eggs, other high-protein foods) Unexplained "cerebral palsy" Family History Death of newborn males (related through females in a manner consistent with X-linked inheritance) in the first week of life from "sepsis" or with unexplained somnolence, refusal to feed, tachypnea, and catastrophic illness is suggestive of OTC deficiency. ... Although metabolic strokes (involving the caudate and putamen and resulting in extrapyramidal syndromes) have been described in OTC deficiency and CPS1 deficiency (see Urea Cycle Disorders Overview) [Keegan et al 2003, Takanashi et al 2003], they are not typical for urea cycle disorders.
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females.
A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae. Epidemiology Ornithine transcarbamylase deficiency (OTCD) is the most common type of urea cycle disorder. Worldwide prevalence estimates range between 1/56,500 to 1/113,000 live births. Clinical description Males with the severe, neonatal-onset type are normal at birth but develop poor sucking, hypotonia and lethargy after a few days, rapidly progressing into somnolence and coma.
Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels are too high and especially affects the nervous system. Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood. Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures, or coma. When not treated, the disease can lead to development delay, intellectual disability, and liver damage.
Thaler et al. (1974) described a 'novel protein tolerant variant' of OTC deficiency in a child with encephalopathy with fatty visceral degeneration suggestive of Reye syndrome. Krieger et al. (1979) reported a male infant with OTC deficiency who was relatively symptom free for 4 months, but gradually developed severe spasticity due to cerebral atrophy, and died at 13 months of age. ... The authors noted that the clinical picture of OTC deficiency during acute exacerbations with microvesicular fat accumulation in the liver may suggest Reye syndrome. Bruton et al. (1970) described astrocyte transformation to Alzheimer type II glia, a feature of any form of hyperammonemia. ... There is a recognizable congenital phenotype, the fetal valproate syndrome (609442; Winter et al., 1987), which may not be related to OTC deficiency. ... Ardinger et al. (1988) provided verification of the fetal valproate syndrome phenotype. Clayton-Smith and Donnai (1995) reviewed and illustrated the facial features and other clinical findings in sibs whose mother took 1.2 grams of valproate per day while pregnant.
Post-thrombotic syndrome Other names postphlebitic syndrome, venous stress disorder Person with post-thrombotic syndrome and leg ulcers Specialty Hematology Post-thrombotic syndrome (PTS), also called postphlebitic syndrome and venous stress disorder is a medical condition that may occur as a long-term complication of deep vein thrombosis (DVT). ... "Risk factors for post-thrombotic syndrome in patients with a first deep venous thrombosis". ... "Predictors of the post-thrombotic syndrome during long-term treatment of proximal deep vein thrombosis" . ... PMID 19737994 . ^ Elman EE, Kahn SR (2006). "The post-thrombotic syndrome after upper extremity deep venous thrombosis in adults: a systematic review". ... "Incidence and cost burden of post-thrombotic syndrome" . Journal of Thrombosis and Thrombolysis . 28 (4): 465–76. doi : 10.1007/s11239-009-0309-3 .
Miozzo et al. (1992) reported the instructive case of a patient with the Turner syndrome in whom the only X chromosome was involved in a translocation of typical form: t(X;18)(p11;q11).
Synovial sarcoma is a rare and aggressive soft tissue sarcoma . In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if it presses on nearby nerves. Although synovial sarcoma does not have a clearly defined cause, genetic factors are believed to influence the development of this disease. Cells in these tumors are usually characterized by the presence of a translocation involving chromosomes X and 18 .
Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).
Jaffe–Campanacci syndrome Other names Multiple non-ossifying fibromatosis [1] Jaffe-Campanacci-Syndrome, boy 7 Y, tibial bowing and cortical/subcortial mixed sclerosis Jaffe–Campanacci syndrome is one of the disorders associated with café au lait macules (CALMs). ... "Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?" . J Bone Joint Surg Br . 65 (5): 627–32. doi : 10.1302/0301-620X.65B5.6643569 .
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. ... Differential diagnosis The differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.
Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. Clinical Features Bazex et al. (1964, 1966) reported a syndrome comprising hypotrichosis, follicular atrophoderma, and multiple basal cell neoplasms. ... The patient's newborn brother also had features of the syndrome. Yung and Newton-Bishop (2005) noted that trichoepitheliomas and hidradenitis suppurativa had not previously been described in Bazex syndrome. ... Inheritance Viksnins and Berlin (1977) suggested X-linked dominant inheritance in Bazex syndrome because no male-to-male transmission had been reported. ... The report of Rapelanoro et al. (1994), with follow-up by Lacombe and Taieb (1995), also indicated that Bazex syndrome shows X-linked dominant inheritance.
Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions. Epidemiology To date, approximately 145 cases have been reported in the literature. The syndrome most commonly affects males over 40 years of age (mean age of onset: 61 years), and only 12 female patients have been reported so far. ... Etiology The pathogenesis of Bazex syndrome remains unknown. It may be caused by the production of epidermal growth factor by tumor cells or by cross-reactivity between epidermal and tumor antigens.
This article is about the inherited condition Bazex syndrome. For the cutaneous condition Bazex syndrome, see Acrokeratosis paraneoplastica of Bazex . Bazex–Dupré–Christol syndrome Other names Bazex syndrome, [1] follicular atrophoderma and basal cell carcinomas [1] This condition is inherited in an X-linked dominant manner. Bazex–Dupré–Christol syndrome is a very rare condition inherited in an X-linked dominant fashion. ... You can help by adding to it . ( March 2017 ) See also [ edit ] Crouzon syndrome List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... "The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq" . J. Invest.
Although Soong et al. (2001) postulated that the differences may be due to subclinical neuronal cell dysfunction, variation in regional blood flow, or metabolic dysfunction in structurally intact neurons, they suggested that the findings may indicate that SCA6 is not a purely cerebellar syndrome. Christova et al. (2008) observed abnormal ocular motor anomalies in 4 presymptomatic SCA6 patients with CACNA1A mutations. ... SCA6 presented with a predominantly cerebellar syndrome, and patients often had onset after 55 years of age. ... All 7 SCA6 patients had expanded alleles of the CACNL1A4 gene and signs of a pure cerebellar syndrome. Among 202 Japanese and 177 Caucasian families with autosomal dominant SCA, Takano et al. (1998) found that the prevalence of SCA6 was significantly higher in the Japanese population (11%) compared to Caucasian population (5%).
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood.
Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance ( ataxia ). Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). The signs and symptoms of SCA6 typically begin in a person's forties or fifties.
Summary Clinical characteristics. Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus.
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. Epidemiology Spinocerebellar ataxia type 6 (SCA6) estimated worldwide prevalence is less than 1/100,000. It is most commonly seen in Japan, Korea, the Netherlands and Germany. Clinical description The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia, dysarthria and dysphagia.