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 sporadic, however there are reported familial cases associated with several syndromes. Micrognathia. Cleft palate (U-shaped and not V-shaped). [fetalultrasound.com]

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]

It is believed to have a genetic component; however, most cases are sporadic and potentially multi-factorial. [houstonmethodist.org]

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

Approximately 300 children per year are born with Beckwith-Wiedemann syndrome and while most cases are sporadic, some may be hereditary depending on the underlying cause. [nicklauschildrens.org]

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

Most cases are sporadic with a negative family history, although inherited forms have been described. [eyewiki.aao.org]

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. However, there are rare familial cases that exhibit autosomal dominant, autosomal recessive and multifactorial modes of inheritance. [patient.info]

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

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]

Cutis Marmorata Telangiectatica Congenita

Most cases occur sporadically although rare cases occur in families. [scolaris.beta.semantico.com]

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

[…] reported because it is usually a benign disorder, and most cases that are reported have associated vascular malformations, hypoplasia, or hyperplasia of the limbs.[4] In our case [journals.lww.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]

Duane Retraction Syndrome

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

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]

In most cases, the abducens nucleus and nerve are absent or hypoplastic, and the lateral rectus muscle is innervated by a branch of the oculomotor nerve. [ncbi.nlm.nih.gov]

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]

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]

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 are sporadic, but autosomal dominant inheritance has been described. [accessanesthesiology.mhmedical.com]

Most cases occur sporadically. [ijpmonline.org]

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]

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]

Angioma Serpiginosum

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

Congenital Longitudinal Deficiency of the Ulna

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

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]

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

Sebocystomatosis

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

Epidermolysis Bullosa Pruriginosa

Most cases are sporadic (3), however, a few show autosomal dominant or autosomal recessive pattern of inheritance (2). [brieflands.com]

It is characterized by nodular prurigo-like lichenified lesions, nail dystrophy, and variable presence of albopapuloid lesions.[ 2 ] Most cases are sporadic, but a few show [ncbi.nlm.nih.gov]

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

Brief report| July 17, 2014 Brief Report Katelyn E. Gagne 1Division of Hematology/Oncology, Stem Cell Program, and Search for other works by this author on:, Roxanne Ghazvinian 2Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Search for other[…] [ashpublications.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]

Gestational Choriocarcinoma

Most reported cases are familial but sporadic cases have also been identified. [proquest.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]

KID Syndrome

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

cases are sporadic but familial cases with autosomal dominant inheritance have been reported. [3] Treatment focuses on the specific symptoms present. [3] Last updated: 12 [rarediseases.info.nih.gov]

However, in one-third of cases of Down syndrome resulting from translocation there is a hereditary component – accounting for about 1% of all cases of Down syndrome. [ndss.org]