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13 Possible Causes for Buccal Frenulae, Heart Valve Disease, Polydactyly

  • Ellis-Van Creveld Syndrome

    , ventricular septal defects (VSD), atrial septal defects (ASD), and hypoplastic left heart syndrome. [3] Significant heart disease may manifest as cardiac murmur, along with[emedicine.com] [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]

  • Gorlin Psaume Syndrome

    : Thick heart valves Lung: obstructive airway disease Abdomen: Organomegaly Skeleton: Short neck, broad chest, joint stiffness, restricted joint movement 121 122.[de.slideshare.net] 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]

  • Pallister W Syndrome

    Of those children with Down syndrome who are born with congenital heart disease, an antrioventricular septal defect is the most common.[ndss.org] 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]

  • Autosomal Dominant Prognathism

    ; Early loss of teeth; Thin lips CARDIOVASCULAR: [Heart]; Mitral valve prolapse; [Vascular]; Intracranial aneurysm RESPIRATORY: [Lung]; Spontaneous pneumothorax; Hemoptysis[findzebra.com] 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,[en.wikibooks.org] […] exemplified characteristic features of AFA syndrome but also presented with features like notching of maxillary anteriors, elongated uvula, dystrophic nails and postaxial polydactyly[e-kjgm.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The most common forms of congenital heart disease associated with this disorder include: - Pulmonary valve stenosis: often associated with a thickened and dysplastic valve[flipper.diff.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org] […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com]

  • Isolated Brachycephaly

    Adult patients, without known congenital heart disease, may develop mitral valve prolapse or aortic regurgitation.[patient.info] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] include holoprosencephaly and associated facial abnormalities, microcephaly, cardiac and renal abnormalities (often enlarged and echogenic kidneys), exomphalos and postaxial polydactyly[sonoworld.com]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    Difficult to visualize prenatally -Primum - may or may not be associated with ventricular septal defect Tetralogy of Fallot Most common form of cyanotic heart disease Ebstein[flashcardbook.com] 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]

  • Congenital Velopharyngeal Incompetence

    Likewise, anticoagulation for reasons such as a prosthetic heart valve may be a contraindication to surgery.[thehealthscience.com] frenula buccolingual relationship \bŭk#o-lı̆ng#gwal rı̆-la#shun-shı̆p\: any po- sition of reference relative to the tongue and cheeks buccoversion \bŭk#ko-vûr#shun[docsity.com] Digital: Asymmetric shortening of digits with clinodactyly, syndactyly, and/or brachydactyly of hands and unilateral polydactyly of feet.[plasticsurgerykey.com]

  • Orofaciodigital Syndrome Type 7

    Isolated Nonsyndromic Congenital Heart Disease/Defects NKX2.6 NK2 Homeobox 6 Congenital Heart Diseases (CHD) NODAL Nodal Growth Differentiation Factor Congenital Heart Diseases[bcm.edu] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[doi.org] […] syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii;srps3, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy[mendelian.co]

  • Joubert Syndrome 22 with Orofaciodigital Defect 6

    Isolated Nonsyndromic Congenital Heart Disease/Defects NKX2.6 NK2 Homeobox 6 Congenital Heart Diseases (CHD) NODAL Nodal Growth Differentiation Factor Congenital Heart Diseases[bcm.edu] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Systemic Features: Polydactyly of the hands is a common feature. The central metacarpal is often Y-shaped leading to ‘central polydactyly’. The large toes may be bifid.[disorders.eyes.arizona.edu]

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