Autosomal Dominant & Pediatric Disorder & Polyps: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Autosomal Dominant, Pediatric Disorder, Polyps,

Negated

None

Unsure

None

Possible Causes

Familial Adenomatous Polyposis

Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. [emedicine.medscape.com]

The patient underwent laparoscopic cholecystectomy under a preoperative diagnosis of multifocal gallbladder polyps. [ncbi.nlm.nih.gov]

English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the [wikidata.org]

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Gardner Syndrome

Naylor and Emanuel Lebenthal Pediatrics February 1979, 63 (2) 222-227; Abstract Gardner's syndrome, an autosomal dominant disorder, consists of multiple polyposis of the colon [pediatrics.aappublications.org]

Polyp tissues from the three patients displayed the AB phenotype. This finding suggests a multiclonal origin of polyps in Gardner syndrome. [ncbi.nlm.nih.gov]

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps [ncbi.nlm.nih.gov]

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Juvenile Polyp

Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial. Clin Gastroenterol Hepatol 2005; 3 :264–270. 21. [nature.com]

METHODS: Children were identified as SJP (1 polyp), MJP (2-4 polyps), or JPS ( 5 polyps). [ncbi.nlm.nih.gov]

An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic [ajol.info]

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Peutz-Jeghers Syndrome

[…] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ). [clincancerres.aacrjournals.org]

polyps (n 14). [ncbi.nlm.nih.gov]

From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal [wikidata.org]

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Hereditary Hemorrhagic Telangiectasia

The monoclonal antibody bevacizumab, seems to be a good option in this disorder. [ncbi.nlm.nih.gov]

The patient was found to have polyps on colonoscopy leading to genetic testing revealing an SMAD4 mutation. [ncbi.nlm.nih.gov]

BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. [ncbi.nlm.nih.gov]

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Tuberous Sclerosis

Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010. [pediatrics.aappublications.org]

Multiple small polyps were found scattered through the left colon and rectum. [ncbi.nlm.nih.gov]

In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child. [sharecare.com]

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Blue Rubber Bleb Nevus Syndrome

Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric [floatinghospital.org]

This is particularly useful since barium studies, the cheaper and more widely accessible alternative only shows polypoid structures and is unable to differentiate between polyps [symptoma.com]

"Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency [ncbi.nlm.nih.gov]

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Lynch Syndrome

Abstract Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers [ncbi.nlm.nih.gov]

Polyps found during the first pass were removed. [ncbi.nlm.nih.gov]

Summary Currarino syndrome is a rare autosomal dominant disorder and the human homeobox gene, HLXB9, is the major causative locus. [jmg.bmj.com]

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Preauricular Sinus or Pit

[…] and dermoid cysts; Inflammatory adenopathy; Disorders and tumors of the salivary glands; Intraoral and lingual lesions; and the Exit procedure. [books.google.ro]

Bulla-choanal polyp causing acute upper airway obstruction - 13th ASEAN ORL in Siem Reap, Cambodia - 20117. [blanc.ph]

Abstract We report on a novel autosomal dominant disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular [ncbi.nlm.nih.gov]

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Allergic Rhinitis

Abstract The studies of T-regulatory (Treg) cells in the pediatric allergic disorders, especially allergic rhinitis (AR), are very few and still far from being elucidated. [ncbi.nlm.nih.gov]

It is, therefore, very important for anyone with polyps or a tendency to polyps to avoid NSAID’s by always reading the labels carefully. [allergiesexplained.com]

People with autosomal dominant hyper-immunoglobulin E syndrome (HIES) have recurrent bacterial infections of the skin and lungs. [niaid.nih.gov]

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Cryopyrin-Associated Periodic Syndrome

Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre [ncbi.nlm.nih.gov]

Nucleotide-binding oligomerization domain (NOD)-like receptors (NLRs) have a potential role in chronic rhinosinusitis/polyps Periodic Fever Syndromes - 25-min COLA video lecture [allergycases.blogspot.com]

The disease was inherited as an autosomal dominant trait. [ncbi.nlm.nih.gov]

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Frontonasal Dysplasia

Radiology of syndromes and metabolic disorders. Pediatric Surgery. 2 nd ed. Chicago, IL: Year Book Medical; 1983. p. 235. [Figure 1] [Table 1] [ruralneuropractice.com]

It is a triad of developmental defects of the face, comprising midline cleft of the upper lip, nasal and facial skin polyps and central nervous system lipomas. [en.wikipedia.org]

This observation suggests autosomal dominant inheritance. [ncbi.nlm.nih.gov]

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Kallmann Syndrome

Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations. [ncbi.nlm.nih.gov]

These polyps are found in people with allergies, histories of sinusitis & family history. Individuals with cystic fibrosis often develop nasal polyps. [en.wikipedia.org]

Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms [ncbi.nlm.nih.gov]

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Anemia

One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself. [childrenshospital.org]

Conditions that may lead to anemia include • Heavy periods • Pregnancy • Ulcers • Colon polyps or colon cancer • Inherited disorders • A diet that does not have enough iron [youtube.com]

ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance [orpha.net]

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Hereditary Mixed Polyposis Syndrome

Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. [emedicine.medscape.com]

Polyps can undergo malignant change. [ncbi.nlm.nih.gov]

HMPS appears to be inherited in an autosomal dominant manner. Genetic linkage analysis has been performed on a large family with HMPS. [ncbi.nlm.nih.gov]

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Juvenile Polyposis Syndrome

Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. [emedicine.medscape.com]

Multiple polypectomies were performed, and several polyps showed adenomatous change. [ncbi.nlm.nih.gov]

OBJECTIVE: Juvenile polyposis syndrome is a rare autosomal dominant disorder with incomplete penetrance. [ncbi.nlm.nih.gov]

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Selective IgA Immunodeficiency

Source: Pediatrics, 1966 and Immunologic disorders in infants and children, by E. Richard Stiehm, Hans D. Ochs, Jerry A. Winkelstein. [allergycases.blogspot.com]

[…] and Signs Most patients with selective IgA deficiency are asymptomatic; others have recurrent sinopulmonary infections, diarrhea, allergies (eg, asthma, associated nasal polyps [merck.com]

It may be inherited as an autosomal dominant or autosomal recessive trait. It is usually found in people of European origin. [nlm.nih.gov]

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MUTYH-Related Attenuated Familial Adenomatous Polyposis

J Pediatr Hematol Oncol 1998; 20(3): 274-278. 30. Gomez Garcia EB, Knoers NV: Gardner’s syndrome (familial adenomatous polyposis): a cilia-related disorder. [czytelniamedyczna.pl]

Often a single polyp is involved, but more complex situations are also encountered, including the well-defined pattern of polyposis. [books.google.com]

Both FAP and AFAP are inherited in an autosomal dominant manner. MYH -associated polyposis (MAP) is caused by mutations in the mutY homolog ( MYH ) gene. [myriadgenetics.eu]

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Dyskeratosis Congenita

The lifetime occurrence of any of these disorders in our study was 83% in pediatric subjects and 88% in adults. [ncbi.nlm.nih.gov]

Upper gastrointestinal endoscopy showed multiple polyps in the stomach with antropyloric wall thickening. [meajo.org]

PURPOSE: To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage [ncbi.nlm.nih.gov]

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Juvenile Paralysis Agitans of Hunt

[…] see Chap. 37 ), birth injuries, epilepsy, disharmonies of development, and learning disabilities (see Chap. 27 )—make up the bulk of the clinical problems with which the pediatric [accessmedicine.mhmedical.com]

Partial loss or necrosis of ear ossicles 385.3 Cholesteatoma of middle ear and mastoid Cholesterosis of (middle) ear Epidermosis of (middle) ear Keratosis of (middle) ear Polyp [theodora.com]

Heritability: Autosomal dominant inheritance Clinical Modifiers: Slow progression AKA: Parkinson disease, juvenile, of Hunt, paralysis agitans, juvenile, of Hunt Annotation [monarchinitiative.org]

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Multiple Hamartoma Syndrome

disorder characterized by macrocephaly, developmental retardation and penile pigmented macules Among the many abnormalities, the following are of most relevance to surgical [surgpathcriteria.stanford.edu]

Colorectal polyps are described in five patients with Cowden's disease. [ncbi.nlm.nih.gov]

Autosomal dominant form of Opitz G/BBB syndrome. [monarchinitiative.org]

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Von Hippel-Lindau Disease

Praticò and Agata Polizzi, Neurocutaneous Disorders, Textbook of Pediatric Neurosurgery, 10.1007/978-3-319-31512-6_42-1, (1-49), (2018). [doi.org]

[…] angiomata Lhermitte-Duclos disease Lipomatous hamartoma Moniliform hamartoma Neoplasm and/or hamartoma Neurocutaneous melanosis sequence Parkes Weber syndrome Peutz-Jeghers polyps [icd9data.com]

Inheritance is autosomal dominant with variable clinical expression. Very long list of ocular features. [whonamedit.com]

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Hereditary Neonatal Hyperparathyroidism

J Pediatrics 127:723, 1995 Roe, C.R. and Ding, J. Mitochondrial Fatty Acid Oxidation Disorders. [genico.ch]

[…] of juvenile polyps. [aetna.com]

Hyperparathyroidism was found in their father, suggesting autosomal dominant inheritance. The disease is fatal unless recognized early and treated. [ncbi.nlm.nih.gov]

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Congenital Optic Disc Coloboma

Accompanying ocular disorders may include aniridia, albinism, coloboma, Duane retraction syndrome, high myopia, and numerous neurological and pediatric conditions. [mhmedical.com]

Rhinorrhea has also been described, as well as the dire consequences of surgical biopsy or removal of a presumed nasal polyp. [aao.org]

Typical colobomas are inherited as an autosomal dominant trait with variable penetrance and expression. [advancedradteaching.com]

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Sneddon's Syndrome

MS and other acquired demyelinating disorders of the central nervous system. [yoran.office.ehime-u.ac.jp]

[…] severe or life-threatening complications such as gastrointestinal involvement and heart disease, some patients are only mildly affected, e.g. with skin lesions and nasal polyps [en.wikipedia.org]

A small subset of families might have multiple affected members following autosomal dominant inheritance pattern. [ashg.org]

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Iron Deficiency Anemia

Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital. [childrenshospital.org]

Gastric inverted hyperplastic polyp (IHP) is a rare gastric polyp characterized by the downward growth of hyperplastic mucosal components into the submucosal layer. [ncbi.nlm.nih.gov]

The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload. [ncbi.nlm.nih.gov]

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Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development, including adrenal lesions. [ncbi.nlm.nih.gov]

We describe the first case of BWS presenting with an oral polyp. [ncbi.nlm.nih.gov]

Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance. [ncbi.nlm.nih.gov]

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Schwartz-Lelek Syndrome

Craniotubular bone disorders. Pediatric Radiology, Vol. 24, Issue. 6, p. 392. [cambridge.org]

[…] rheumatica Polymyositis Polyneuritis Polyneuropathy hand defect Polyneuropathy mental retardation acromicria prema Polyomavirus Infections Polyostotic fibrous dysplasia Polyp–Polys [sosu.us]

There are two forms, autosomal dominant and autosomal recessive, although other variants have been documented. [iofbonehealth.org]

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SHORT Syndrome

Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. [medlineplus.gov]

Nasal polyps were reported 2. Treatment of sinus infections should follow guidelines for the general population 112, 113. [nature.com]

A variable expression of an autosomal dominant gene can be considered in the present family. [ncbi.nlm.nih.gov]

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Coxa Vara

Abstract Developmental coxa vara (DCV) is a well-known pediatric hip disorder that is associated with triplanar deformity of the proximal femur. [ncbi.nlm.nih.gov]

The gastroenterologist may perform a colonoscopy to assess the damage to your intestines and the presence of the C. diff and polyps (a fleshy growth on the inside of the colon [apic.org]

Congital, progressive autosomal dominant developmental disorder, or a result of trauma, LCP diesae, SCFE, metabolic disorder, or neoplasm. [eorif.com]

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