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23 Possible Causes for Buccal Frenulae, Cystic Kidney, Polydactyly

  • 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] 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]

  • 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] 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]

  • 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] 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]

  • 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] Other nonspecific findings may include increased nuchal translucency, cystic hygroma, nonimmune hydrops, and cleft palate.[ncbi.nlm.nih.gov]

  • 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] […] hormone deficiency, combined 3 Calabro syndrome Familial glucocorticoid deficiency Chromosome 2q24 microdeletion syndrome Maffucci syndrome Autosomal dominant medullary cystic[checkrare.com]

  • 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] Ureteropelvic junction obstruction and renal anomalies (cystic dysplasia, agenesis, duplication of kidneys) are also common.[glowm.com]

  • 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] Other conditions resulting in oligohydramnios, such as obstructive uropathy, cystic kidney diseases, renal hypoplasia, and premature rupture of membranes lead to the same[emedicine.medscape.com]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] polydactyly that can help you solving undiagnosed cases.[mendelian.co] A recent study confirmed the strong cystic kidney disease phenotype in MKS patients, where cystic kidneys were found in (97.7%) of MKS cases. 22 To improve diagnostic yield[jmg.bmj.com]

  • Isolated Trigonocephaly

    It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net] Myelofibrosis with myeloid metaplasia Pilomatrixoma Polycythemia vera Alobar holoprosencephaly Cherubism Lobar holoprosencephaly Megalencephaly - polymicrogyria - postaxial polydactyly[csbg.cnb.csic.es] […] fibrosis 【嚢腺腫】*cystadenoma 【嚢腺リンパ腫】*cystadenolymphoma 【嚢内貯留胆汁】*biloma 【嚢胞】*cyst *a) cystic 【嚢胞腎】*polycystic kidney *multicystic kidney ( 多嚢胞腎) 【嚢胞水腫】*cystic hygroma 【嚢胞性歯牙腫[medo.jp]

  • Helsmoortel-van der Aa Syndrome

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] J Med Genet 13:466–468 Google Scholar Fryns JP, Van den Berghe H (1979) congenital scalp defects associated with postaxial polydactyly.[link.springer.com] Kidney Blood Press Res 2009;32:380–387 Abstract PDF References Abstract Autosomal dominant polycystic kidney disease (ADPKD) represents a slowly progressing cystic kidney[karger.com]

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