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27 Possible Causes for Buccal Frenulae, Failure to Thrive, Hypertelorism

  • 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] 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] , high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate[chr7.org]

  • Saethre-Chotzen Syndrome

    Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov]

  • Growth Failure

    (A) Lateraland (B) frontal views of the face of the boy at 5 years of age show medialeyebrow flare, wide nasalbridge, hypertelorism, epicanthal folds, broad nasal tip with[cyberleninka.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] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.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] 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] […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.com]

  • X-Linked Mandibulofacial Dysostosis

    With Esophageal Abnormality And Hypospadias Hypertelorism-Hypospadias Syndrome Telecanthus-Hypospadias Syndrome GBBB1 BBBG1 300000 Genetic Test Registry[ukgtn.nhs.uk] […] 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]

  • Pallister-Hall Syndrome

    […] 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] No reported cases of GCPS have hypothalamic hamartoma and PHS does not cause hypertelorism or broadening of the nasal root or forehead.[ncbi.nlm.nih.gov]

  • 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] 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] 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]

  • 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] 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] Chemical compound and disease context of Hypertelorism Only hypertelorism and digital hypoplasia were associated with phenytoin exposure [11].[wikigenes.org]

  • Smith Lemli Opitz Syndrome

    She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov] 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]

  • Simpson Dysmorphia Syndrome

    […] lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism[rarediseases.info.nih.gov] 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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