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17 Possible Causes for Buccal Frenulae, Exophthalmos, Failure to Thrive

  • Saethre-Chotzen Syndrome

    Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.[ojrd.biomedcentral.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Diagnosis Code Q75.0 Craniosynostosis 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To Acrocephaly Imperfect fusion of skull Oxycephaly Trigonocephaly with exophthalmos[icd10data.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Corneal clouding, microphthalmia, and exophthalmos occur frequently.[nejm.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]

  • Autosomal Dominant Prognathism

    Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.[medical-dictionary.thefreedictionary.com] […] 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] 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]

  • Smith Lemli Opitz Syndrome

    […] reports have broadened the picture of the Smith-Lemli-Opitz (SLO) syndrome, adding the following ocular abnormalities: small palpebral fissures with antimongoloid slant, mild exophthalmos[healio.com] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] 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]

  • X-Linked Mandibulofacial Dysostosis

    […] cranial sutures) Severe symmetrical syndactyly Low-set ears Cognitive function normal to severe mental retardation Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos[slideplayer.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]

  • Baller-Gerold Syndrome

    Severe exophthalmos with corneal ulcerations is commonly observed.[rrnursingschool.biz] […] 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] At an older age (patient 4 at 3 and 6 years), dysmorphia is less pronounced but failure to thrive is obvious.[ncbi.nlm.nih.gov]

  • Familial Scaphocephaly Syndrome

    Involvement in Disease: Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked[ab-y-ss.com] Failure to thrive can occur in the absence of nutritional support (e.g., nasogastric tube, feeding gastrostomy).[pocketdentistry.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    FGFR2 gene FACE AND HANDS affected Feats: FACE - craniosynostosis (esp bicoronal -- brachycephaly) - flat/concave face (midface growth failure) - shallow bony orbits -- exophthalmos[quizlet.com] […] 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]

  • Pallister W Syndrome

    […] micrognathia-glossoptosis - Q87.0 - oral-facial-digital - Q87.0 - oro-facial-digital - Q87.0 - oto-palatal-digital - Q87.0 - whistling face - Q87.0 - Tower skull - Q75.0 - with exophthalmos[icdlist.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]

  • Simpson Dysmorphia Syndrome

    Features: Head And Neck Macrocephaly With Characteristic Facies Ears Ear Pits Tags Or Creases Eyes Downslanting Palpebral Fissures Exophthalmos Hypertelorism Mouth And Oral[neo-genetics.com] Severe X-linked mitochondrial encephalomyopathy Severe congenital nemaline myopathy Severe early-onset axonal neuropathy due to MFN2 deficiency Severe feeding difficulties-failure[se-atlas.de] 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]

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