Most Cases Are Sporadic: Causes & Reasons

Possible Causes for Most Cases Are Sporadic

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 are thought to be sporadic. Occasional autosomal recessive and autosomal dominant forms have been described. [radiopaedia.org]

Moebius Syndrome

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

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]

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

Autosomal dominant inheritance, with most cases sporadic; influenced by genomic imprinting and uniparental disomy; caused by mutation in the P57 (KIP2) gene on chromosome [medigoo.com]

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]

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]

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]

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]

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

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

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

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]

Recessive Aplasia Cutis Congenita of Limbs

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

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 are sporadic but genetic backgrounds (autosomal dominant and recessive inheritance) have also been reported; the large ulcerated lesions are often transmitted as [scielo.br]

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]

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]

Acrodysostosis

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

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]

Angioma Serpiginosum

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

Rubinstein-Taybi Syndrome

Most cases are sporadic (not passed down through families). [mountsinai.org]

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]

Olivopontocerebellar Atrophy - Deafness

Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. [wordscope.com]

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

How is Diamond-Blackfan anemia diagnosed? To diagnose DBA, your child’s physician may order some or all of the following tests: Blood tests, including a complete blood count with reticulocytes (in DBA, this test shows an abnormally low number of red blood cells and reticulocytes [young red cells], but normal numbers[…] [childrenshospital.org]

Monomelic Amyotrophy

Arquivos de Neuro-Psiquiatria (Sep 2000) Benign monomelic amyotrophy: a study of twenty-one cases Amiotrofia monomélica benigna: estudo de 21 casos Abstract Read online A consecutive series of 21 patients with single limb atrophy (monomelic amyotrophy) is reported. Sixteen had lower limb atrophy and five had[…] [doaj.org]

Collagenopathy Type 2 - Collagenopathy Type 11

Achondrogenesis type I exhibits autosomal recessive inheritance, whereas most type II cases are sporadic, resulting from new autosomal dominant mutations [3]. [hindawi.com]

Creutzfeldt-Jakob Disease Heidenhain Variant

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]

In most cases, the disease occurs sporadically, but a small proportion of cases are genetically determined. [jamanetwork.com]

It can be sporadic, which is the most common form, accounting for 85% of cases; inherited, by various mutations in the prion protein gene; iatrogenic, caused by inoculation [ncbi.nlm.nih.gov]

Trisomy 8

Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm). [rarediseases.info.nih.gov]

Cutis Marmorata Telangiectatica Congenita

Most cases occur sporadically although rare cases occur in families. [journals.lww.com]

cases occurring sporadically, although rare cases were reported in families. [en.wikipedia.org]

Most cases occur sporadically, although rare cases occur in families. [dermaamin.com]

Oligocone Trichromacy

Genetic counseling Although most reported cases are sporadic, the disorder is likely to be inherited as an autosomal recessive trait as a number of affected sibling pairs [orpha.net]

Levy-Hollister Syndrome

Autosomal-dominant inheritance is recognised, but most cases are sporadic. [semanticscholar.org]

Ulnar involvement is 10 times less common, and only 1 in 4 cases is bilateral. Most cases are sporadic, but some occur as part of a recognized syndrome (Table). [consultant360.com]

Corpus Callosum Lipoma

The exact origin of FND is unknown and most cases are sporadic,7 although a mutation in the TGIF gene has been observed in familial cases of FND, which are very rare.8 Patients [actasdermo.org]

Microphthalmia-Anophthalmia-Coloboma Spectrum

Most MAC cases are sporadic, and genetic mutations are undetectable. However, clinical and experimental evidence suggests heterogeneous genetic involvement (18-21). [eoftalmo1.hospedagemdesites.ws]

GENETIC INHERITANCE Sporadic cases are the most frequent; however, autosomal dominant, autosomal recessive, and X-linked recessive inheritance have also been described (11 [eoftalmo1.hospedagemdesites.ws]

Table 7 describes the known genes involved, as well as inheritance, ocular phenotype, and the most frequent clinical associations (12). [eoftalmo1.hospedagemdesites.ws]