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2,192 Possible Causes for Adult-Onset Polycystic Kidney (50%), Buccal Frenulae, Polydactyly

Did you mean: Adult-Onset Polycystic Kidney (50, ), Buccal Frenulae, Polydactyly

  • 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] […] of the left hand, wide halluces Postaxial polydactyly of both hands, preaxial polydactyly of both feet Postaxial polydactyly of both hands, bifid halluces, bifid right fifth[ncbi.nlm.nih.gov] 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]

  • Pallister-Hall Syndrome

    frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Mohr Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third[ncbi.nlm.nih.gov] Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients.[ncbi.nlm.nih.gov]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Smith Lemli Opitz Syndrome

    These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] , sex reversal, renal hypoplasia, and unilobular lung Rsh Syndrome Lethal Acrodysgenital Syndrome Slo Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung[wikidata.org]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Simpson Dysmorphia Syndrome

    frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[en.wikipedia.org]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Curry Hall Syndrome

    These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org] Postaxial foot polydactyly MedGen UID: 384489 • Concept ID: C2112129 • Finding Polydactyly of the foot most commonly refers to the presence of six toes on one foot.[ncbi.nlm.nih.gov] Curry and Hall [1979] described a large Spanish-Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs[ncbi.nlm.nih.gov]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Ellis-Van Creveld Syndrome

    [Figure 3] and [Figure 4], serrations of the alveolar ridge were observed distally to the upper central incisors [Figure 5], obliteration of both buccal and labial vestibule[drjjournal.net] Polydactyly is the most frequent skeletal anomaly.[ncbi.nlm.nih.gov] Male and female second cousins with short limbs, postaxial polydactyly and cardiac malformations are described.[ncbi.nlm.nih.gov]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Pallister W Syndrome

    These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

    Missing: Adult-Onset Polycystic Kidney (50%)
  • Patau Syndrome

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com]

    Missing: Adult-Onset Polycystic Kidney (50%) Buccal Frenulae
  • Skin Cancer

    Skin cancer is an abnormal growth of skin cells. It most often develops on areas of the skin exposed to the sun’s rays. Skin cancer affects people of all colors and races, although those with light skin who sunburn easily have a higher risk. What does skin cancer look like? Actinic Keratoses (AK) These dry, scaly[…][aad.org]

    Missing: Adult-Onset Polycystic Kidney (50%) Buccal Frenulae

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