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28 Possible Causes for Buccal Frenulae, Failure to Thrive, Mental Retardation

  • 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] […] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation[centogene.com]

  • Smith Lemli Opitz Syndrome

    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] Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov]

  • Growth Failure

    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] The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below.[pediatrics.aappublications.org]

  • X-Linked Mandibulofacial Dysostosis

    […] 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] Syndrome Mental Retardation-Macroorchidism Syndrome Mental Retardation-Microcephaly-Blepharochalasis Syndrome Mental Retardation-Mitral Valve Prolapse-Characteristic Face[neo-genetics.com]

  • Saethre-Chotzen Syndrome

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome.[ncbi.nlm.nih.gov] The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic[ncbi.nlm.nih.gov]

  • Baller-Gerold Syndrome

    […] 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] retardation.[ncbi.nlm.nih.gov]

  • 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] Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures.[ncbi.nlm.nih.gov]

  • 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] Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae]

  • 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] […] lips Congenital heart problems(Aortic stenosis) Mild mental retardation Friendly personality[paediatricks.com]

  • 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] MalaCards integrated aliases for Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies: Name: Mental Retardation, Obesity, Mandibular Prognathism[malacards.org]

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