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23 Possible Causes for Buccal Frenulae, Failure to Thrive, Imperforate Anus

  • Pallister-Hall Syndrome

    Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis.[ncbi.nlm.nih.gov] […] to thrive cyanosis regurgitation/reflux DIFFERENTIAL DIAGNOSIS laryngomalacia vocal cord paralysis laryngopharyngeal reflux disease neuromuscular swallowing disorder reactive[laryngeal-cleft.com] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • Baller-Gerold Syndrome

    Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula are further features.[doi.org] […] of the radius 0006501 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Brachyturricephaly High, prominent forehead 0000244 Failure[rarediseases.info.nih.gov] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    anus, micropenis, bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum, low-set ear.[en.wikipedia.org] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[aafp.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]

  • Growth Failure

    […] malformation syndrome which consists of hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly and imperforate anus (see OMIM 146510, table 1) 30.[analesdepediatria.org] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Failure to thrive has many possible causes. In some cases, more than one thing may cause it. A baby or child may not be taking in enough nutrients and calories.[childrensnational.org]

  • Pallister W Syndrome

    Anal stenosis without imperforate anus has also been reported.[jmg.bmj.com] […] 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] 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]

  • Smith Lemli Opitz Syndrome

    Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome?[ajnr.org] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.[ncbi.nlm.nih.gov]

  • X-Linked Mandibulofacial Dysostosis

    Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly (Mishap) Syndrome Microphthalmia Or Anophthalmos With Associated Anomalies (Maa) Microphthalmia-Dermal[neo-genetics.com] […] to thrive, Growth retardation, Congenital malformations (30%-50%) 1:100,000 and 1:200,000 Age of onset: 1 year Dyserythropoietic anemia COX4I2, C15orf41, KIF23, KLF1 Moderate[centogene.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,[widesmiles2.org]

  • Curry Hall Syndrome

    "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org] […] to thrive, facial dysmorphism, ambiguous, genitalia, syndactyly, postaxial polydactyly, Hirschprung disease, cardiac and renal malformations Autosomal recessive Rutledge[glowm.com] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    anus, cryptorchidism, cardiac anomalies p12 8166428, 8839888, 10494083 Ref. 14 [8839888], case 9 [10494083] trisomy of 7p12-pter Edit 62 7065008_2 46, XY, t(7;20)(p12;q11[chr7.org] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] 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]

  • Helsmoortel-van der Aa Syndrome

    Treatment and prognosis Manage the presenting manifestations of the disease: surgical correction of imperforate anus treatment of hearing loss early in the disease course[radiopaedia.org] Transient neonatal seizures, nystagmus, strabismus and failure to thrive are also seen in most cases.[findzebra.com] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

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