Most Cases Are Sporadic: Causes & Reasons

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Possible Causes for Most Cases Are Sporadic

Nager Syndrome

Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. [ncbi.nlm.nih.gov]

It can be inherited, but most cases are sporadic. What are the Symptoms of Treacher Collins Syndrome, Nager syndrome and Miller Syndrome? [hopkinsallchildrens.org]

Most cases tend to be sporadic. [en.wikipedia.org]

Moebius Syndrome

Most cases are sporadic mutations, but an autosomal dominant transmission has been described (chromosome 13). [ 1 ] Risk factors Misoprostol, ergotamine, and chorionic villus [patient.info]

Moebius Syndrome Causes The primary cause of Moebius syndrome is unknown and most cases occur sporadically. [hopkinsmedicine.org]

Creutzfeldt Jakob Disease

Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop between the ages of 60 and 65. [nhs.uk]

Most cases are sporadic, usually occurring in people over 65 years of age and with an overall incidence around the world of one case per million people. [news-medical.net]

Sporadic CJD Sporadic CJD is the most common type. [nhs.uk]

Weaver Syndrome

Most cases are sporadic, although autosomal dominant inheritance has been reported. [diseaseinfosearch.org]

Inheritance patterns and prenatal diagnosis Inheritance patterns Most cases are sporadic mutations and occur by chance in a previously non-affected family. [contact.org.uk]

Genee-Wiedemann Syndrome

Most cases of BWS are sporadic but approximately 15% are familial, with autosomal dominant inheritance. [mun-h-center.se]

For decades, the molecular basis of AFD1 remained unknown, with most cases occurring sporadically and rarely clustering in families and therefore being compatible with both [karger.com]

Most cases are sporadic resulting from de novo dominant mutations [ 34 ]. [radiologykey.com]

Nephroblastoma

Associations Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognized 1,2: overgrowth syndromes (WT2 gene) Beckwith-Wiedemann [radiopaedia.org]

Associations Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognized 1,2 : overgrowth syndromes (WT2 gene) Beckwith-Wiedemann [radiopaedia.org]

Denys-Drash Syndrome

Inheritance is autosomal dominant, but most cases are sporadic. [uniprot.org]

occasionally diagnosed in teenagers / adults; age distribution M = F Most are sporadic but some are associated with several syndromes as well as with nephroblastomatosis [pathologyoutlines.com]

Max Wilms Epidemiology Most common pediatric renal tumor, affecting 1 per 8 - 10,000 children (500 new cases per year in US) 90% diagnosed prior to age 6 years; rarely congenital [pathologyoutlines.com]

Kearns-Sayre Syndrome

Genetic counseling Most cases of KSS are sporadic. Deletions of mtDNA are only exceptionally transmitted from one generation to the next. [orpha.net]

Rett Syndrome

Most cases are sporadic – the mutation occurs randomly. It was originally described by Dr. [brainfoundation.org.au]

Most cases are sporadic – chance – events. However, in about one-third of cases, one parent is a carrier of a translocated chromosome. [ndss.org]

Rett syndrome is a genetic disorder – it is caused by a mutation of the MECP2 gene, which is found on the X chromosome – but less than one percent of recorded cases are inherited [brainfoundation.org.au]

Goldenhar Syndrome

Most cases are sporadic. Epibulbar and limbal dermoids are the ocular hallmarks of Goldenhar syndrome. [aao.org]

Most cases occur sporadically, but some familial cases suggest autosomal dominant inheritance in 1%-2% of instances. For more information, see OMIM. [visualdx.com]

Frontonasal Dysplasia

Most cases are sporadic. [ncbi.nlm.nih.gov]

Genetics Most cases are sporadic although rare familial cases have been described 8. [radiopaedia.org]

Most cases are sporadic although a few familial cases have been described. Some reports are consistent with either autosomal or X-linked dominant inheritance. [cags.org.ae]

Amyotrophic Lateral Sclerosis Type 11

Etiology Most ALS cases are sporadic but 5-10% of cases are familial, and of these 20% involve a mutation of the SOD1 gene (21q22.11), about 2-5% involve mutations of the [orpha.net]

ALS can be classified as either sporadic or familial. Most cases are sporadic. That means no specific cause is known. [healthline.com]

Most cases are sporadic, but high familial incidence is observed occasionally. Amyotrophic lateral sclerosis 11 (ALS11) is one of many subtypes of familial ALS. [symptoma.com]

Duane Retraction Syndrome

Most cases are sporadic and unilateral (usually left side) with a slight female predominance. [ncbi.nlm.nih.gov]

Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. [disorders.eyes.arizona.edu]

Genetic counseling Most cases are sporadic but up to 10% of patients show a familiar pattern with both recessive and dominant inheritance (incomplete penetrance with variable [orpha.net]

Poland Syndrome

Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. [ncbi.nlm.nih.gov]

Although most cases develop sporadically, some reports have identified genetic mutations and a familial occurrence, suggesting a genetic component in this syndrome as well [symptoma.com]

The aetiology is most probably a vascular disruption sequence of the subclavian arteries. In most cases, PS is sporadic. [ncbi.nlm.nih.gov]

Acrodysostosis

Most cases are sporadic. We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. [ncbi.nlm.nih.gov]

Genetic counseling Most cases occur sporadically but autosomal dominant inheritance has been reported in some families, and in these cases genetic counseling is possible. [orpha.net]

Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. [radiopaedia.org]

Angioma Serpiginosum

Although there are familial forms most cases are sporadic. [medigraphic.com]

Recessive Aplasia Cutis Congenita of Limbs

The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. [mayoclinic.pure.elsevier.com]

Most cases occur sporadically but rare familial cases have been reported. [panafrican-med-journal.com]

cases are sporadic but genetic backgrounds (autosomal dominant and recessive inheritance) have also been reported; the large ulcerated lesions are often transmitted as an [ncbi.nlm.nih.gov]

Rubinstein-Taybi Syndrome

Most cases are sporadic (not passed down through families) and likely due to a new genetic defect that occurs either in the sperm or egg cells, or at the time of conception [nicklauschildrens.org]

Most cases are sporadic (not passed down through families). [nlm.nih.gov]

Sebocystomatosis

Although steatocystoma multiplex has historically been described as an autosomal dominant inherited disorder, most presenting cases are sporadic. [2] Steatocystoma simplex [emedicine.medscape.com]

Blue Rubber Bleb Nevus Syndrome

Most cases are sporadic, but familial occurrence has been reported with inheritance as an autosomal-dominant trait. [dermis.net]

Most cases occur sporadically. [ijpmonline.org]

Central nervous system involvement in BRBNS is not often reported, and most cases of BRBNS are sporadic. [ncbi.nlm.nih.gov]

Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis

Some people with BPP have other health problems or birth defects .[1][2][3][4] Most cases of BPP occur sporadically in people with no family history of BPP. [rarediseases.info.nih.gov]

Diamond-Blackfan Anemia Type 1

1 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 56 6 23812780 2013 2 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 56 6 Willig TN...Tchernia G 10590074 1999 3 The gene encoding ribosomal protein S19[…] [malacards.org]

Monomelic Amyotrophy

Verrucous Nevus

cases are sporadic, but a familial case, with the condition occurring in a mother and her daughter, has been described. [ citation needed ] It also has been proposed that [en.wikipedia.org]

[…] leg, (4) pruritus, or "itchiness" (5) marked refractoriness to therapy, and (6) a distinctive psoriasiform and inflammatory histologic appearance. [4] Genetics [ edit ] Most [en.wikipedia.org]

Tetrasomy 15q

cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition.[3][1] Treatment is based on the signs and symptoms present [rarediseases.info.nih.gov]

[…] include poor muscle tone in newborns; developmental delay ; mild to severe intellectual disability ; delayed or absent speech; behavioral abnormalities; and seizures .[1][2] Most [rarediseases.info.nih.gov]

Variably Protease-Sensitive Prionopathy

cases of sporadic prion diseases. [hal.inrae.fr]

We know of the different genetic phenotypes (CJD, FFI, GSS) in humans, but most sporadic cases have been classified as sCJD. [cureffi.org]

[…] four glycoforms of the cellular prion protein (PrPC) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrPSc) in most [hal.inrae.fr]

Sotos Syndrome Type 1

Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. [ojrd.biomedcentral.com]

Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported. [malacards.org]

Some patients may have scoliosis, seizure disorders, congenital heart defects, kidney abnormalities, hearing loss, and visual problems.[1,3,6] Most cases of Sotos syndrome [journals.lww.com]

Freeman-Sheldon Syndrome

cases with occasional sporadic and autosomal recessive forms. [radiopaedia.org]

[…] often tends to be severe camptodactyly ulnar deviation equinovarus congenital kyphoscoliosis club feet Genetics It is thought to carry an autosomal dominant inheritance in most [radiopaedia.org]

Congenital Longitudinal Deficiency of the Ulna

Most cases are sporadic, but several external factors have been implicated in more complex deformities. [clinicalgate.com]

Etiology unknown; however may be related to developmental vascular insufficiency, intrauterine compression, maternal drug exposure Genetics most cases are sporadic mutations [posna.org]

Most cases are sporadic. A family history has been reported in a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance. [dysnet.org]

Bilateral Renal Hypoplasia

Genetic counseling Most cases are sporadic, but familial occurrence has been described. [rarediseases.info.nih.gov]

Adult-onset Oligomeganephronia has been reported in some rare cases Most cases are sporadic, but familial occurrence has been described (Source: Oligomeganephronic Renal Hypoplasia [dovemed.com]

cases of Oligomeganephronic Renal Hypoplasia are sporadic. [dovemed.com]