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10 Possible Causes for Buccal Frenulae, Failure to Thrive, Heart Valve Disease

  • Ellis-Van Creveld Syndrome

    We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early.[ncbi.nlm.nih.gov] [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] , 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[aafp.org] 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]

  • Autosomal Dominant Prognathism

    […] to thrive SOURCES: OMIM NCIT SCTID ORPHANET More info about MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS Low match DIAMOND-BLACKFAN ANEMIA 6; DBA6 Diamond-Blackfan anemia[mendelian.co] ; 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] ), congenital heart disease (PDA s/p surgical closure, ASD closing spontaneously), sagittal craniosynostosis, developmental delay with no speech, dysmorphic features (midline[myresults.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]

  • Pallister W Syndrome

    […] main genetic causes and other rarer cause of PWS all involving chromosome 15 give rise to a pattern of atypical early development characterised by extreme floppiness and failure[ipwso.org] 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]

  • Congenital Velopharyngeal Incompetence

    […] to thrive (Mercado-Deane et al., 2001 Newman et al., 2001Radford, Stillwell, Blue, Hertel,1995).[powershow.com] Likewise, anticoagulation for reasons such as a prosthetic heart valve may be a contraindication to surgery.[thehealthscience.com] […] between the buccal mucous membrane and alveolar ridge.[plasticsurgerykey.com]

  • Craniosynostosis with Ocular Abnormalities and Hallucal Defects

    Related symptoms: Intellectual disability Generalized hypotonia Failure to thrive Delayed speech and language development Macrocephaly SOURCES: OMIM UMLS GARD MONDO More info[mendelian.co] Obstructive anomalies of heart, NEC Uhl's disease 746.85 Coronary artery anomaly Anomalous origin or communication of coronary artery Arteriovenous malformation of coronary[theodora.com] […] between the buccal mucous membrane and alveolar ridge.[plasticsurgerykey.com]

  • Orofaciodigital Syndrome Type 7

    […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 High, narrow palate Narrow, high-arched roof[rarediseases.info.nih.gov] 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]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    […] to thrive, developmental delay and liver disease.[mendelian.co] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] 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]

  • Joubert Syndrome Type 17

    […] to thrive, retinal degeneration and renal dysfunction.[jewishgeneticdiseases.org] MODE OF INHERITANCE: autosomal dominant Aortic valve disease is the most common form of valvular heart disease.[chginc.org] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

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