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2,016 Possible Causes for Buccal Frenulae, Cystic Kidney, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] The patients also had hydronephros, and they later developed cystic kidney disease. There is debate whether this is a distinct type from OFDS I.[genome.gov]

  • Mohr Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] The patients also had hydronephros, and they later developed cystic kidney disease. There is debate whether this is a distinct type from OFDS I.[genome.gov] Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome[degruyter.com]

    Missing: Syndactyly between Adjacent Toes
  • Gorlin Psaume Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Cystic kidneys in a patient with oral-facial-digitalsyndrome type I. Am J Kidney Dis 1982;1(5):288-293.19. Donnai D, Kerzin-Storrar L, Harris R.[docslide.us] These fibrous bands are hyperplastic frenulae extending from the buccal mucous membrane to the alveolar ridge, resulting in notching of the alveolar ridges.[pocketdentistry.com]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple buccal[rrnursingschool.biz]

    Missing: Cystic Kidney
  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: Buccal Frenulae Syndactyly between Adjacent Toes
  • Fabry Disease

    Patients with classic Fabry disease typically have α-Gal A activity of less than 1% and often demonstrate the full spectrum of symptoms. The 2 categories of classic disease manifestation are as follows: Early manifestations Early manifestations generally begin in childhood or adolescence and include the[…][emedicine.medscape.com]

    Missing: Buccal Frenulae Syndactyly between Adjacent Toes
  • Cystic Kidney

    SUMMARY: At present, there are no specific treatments available for patients with cystic kidney disease.[ncbi.nlm.nih.gov] Abstract Cystic kidney disease is an important cause of chronic renal failure.[ncbi.nlm.nih.gov] Abnormal cilia structure and function have both been reported in animal models and human cystic kidneys.[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae Syndactyly between Adjacent Toes
  • Meckel Syndrome

    […] encephalocele, brain malformation, cleft lip, liver fibrosis and cystic kidney disease.[blueprintgenetics.com] MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%.[ncbi.nlm.nih.gov] Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae Syndactyly between Adjacent Toes
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] Growth failure is multifactorial in children with chronic conditions, including patients with cystic fibrosis, chronic kidney disease, chronic liver disease, congenital heart[onlinelibrary.wiley.com] Poor absorption or metabolism of nutrients occurs with: Gastrointestinal disorders including cystic fibrosis, coeliac disease and chronic diarrhoea.[patient.info]

    Missing: Syndactyly between Adjacent Toes
  • Familial Interstitial Nephritis

    kidney disease 2 familial juvenile hyperuricaemic nephropathy uromodulin chromosome 16p gout Statistics from Altmetric.com medullary cystic kidney disease 2 familial juvenile[jmg.bmj.com] Medullary Cystic Kidney Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:693-94. Bleyer AJ.[rarediseases.org] Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002;62(4):1385-94.[revistanefrologia.com]

    Missing: Buccal Frenulae Syndactyly between Adjacent Toes

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