Downslanting lid fissures, widely spaced eyes, and ptosis may be present. Eyebrows have been described as sparse in one patient. Strabismus and ocular apraxia are present in some children. [disorders.eyes.arizona.edu]

These patients may present respiratory difficulties in the first months of life caused by the presented malformations, which may become complicate with colds and infections, mainly in children. [arquivosdeorl.org.br]

Presentation on theme: "A Review of Pediatric Syndromes"— Presentation transcript: 1 A Review of Pediatric Syndromes Jamie Tibbo, PGY-5 Department of Otolaryngology July 25, 2008 2 CHARGE Syndrome Autosomal Dominant Due to a mutation in DNA-binding protein [slideplayer.com]

Here we present a boy with similar facial phenotype and normal cytogenetic investi- gation. [dev.docslide.net]

• Dysostosis

  Synonyms of Maxillofacial Dysostosis autosomal dominant maxillofacial dysostosis General Discussion Maxillofacial dysostosis is an extremely rare genetic disorder characterized by distinctive abnormalities of the head and face (craniofacial) area. [rarediseases.org]

  Keywords: mandibulofacial dysostosis; acrofacial dysostosis; Nager syndrome; Miller syndrome; acrofacial dysostosis type Guion‐Almeida; spliceosome; Treacher Collins syndrome; MFD type Hutterite References Bernier FP, Caluseriu O, Ng S et al. (2012) Haploinsufficiency [els.net]

  Keywords: Acrofacial dysostosis, Nager′ syndrome, Preaxial acrofacial dysostosis How to cite this article: Rai A, Nandimath KR, Sattur AP, Naikmasur VG. Nager's acrofacial dysostosis. [jofs.in]

  Other rare conditions with MFD include mandibulofacial dysostosis Toriello type (OMIM 301950); mandibulofacial dysostosis Bauru Type (OMIM 604830); mandibulofacial dysostosis with macro- blepharon and macrostomia (OMIM 602562); mandibulofacial dysostosis [dev.docslide.net]

  TY - JOUR T1 - Mandibulofacial dysostosis Bauru type: Refining the phenotype. [unboundmedicine.com]

• Macrostomia

  […] isotretinoin, ethanol Autosomal dominant chromosomal abnormalities 1 in 5600 births Males > Females Right side > left Hypoplasia of: Maxilla Mandible Zygoma Ear/EAC TMJ: glenoid fossa/condyle Squamous temporal bone Skin Tags Epibulbar dermoids Colobomas Macrostomia [quizlet.com]

  […] cleft palate, small open mouth, myopathic facies, retrognathia, prominent nose with squared-off nasal tip UNK Treacle TCOF1 5q32-q33.1 154500 Treacher Collins mandibulofacial dysostosis 154500 AD malar hypoplasia, cleft palate, mandibular hypoplasia, macrostomia [widesmiles2.org]

  Other rare conditions with MFD include mandibulofacial dysostosis Toriello type (OMIM 301950); mandibulofacial dysostosis Bauru Type (OMIM 604830); mandibulofacial dysostosis with macro- blepharon and macrostomia (OMIM 602562); mandibulofacial dysostosis [dev.docslide.net]

  [Fig. 1] Facial features: Hypoplasia of the right malar region, macrostomia, tongue tie, high arched palate, depressed frontal region above the right medial canthus, hypertelorism, antimongoloid slant of eyes, depressed bridge of the nose and anteverted [jpgmonline.com]

• High Arched Palate

  […] structural defects antimongoloid palpebral fissures Hypoplasia: zygoma/arches mandible (class II) lower lids Ears/EACs TMJ Clefting: palate zygoma Craniofacial Microsomia (Hemifacial Microsomia, OAVD) OculoAuriculoVertebral Dysplasia 1st and 2nd Branchial [quizlet.com]

  […] seen, (b) Shows high arched palate Click here to view The maxillofacial skeleton was examined radiographically. [jofs.in]

  [Fig. 1] Facial features: Hypoplasia of the right malar region, macrostomia, tongue tie, high arched palate, depressed frontal region above the right medial canthus, hypertelorism, antimongoloid slant of eyes, depressed bridge of the nose and anteverted [jpgmonline.com]

  A high arched palate can cause overcrowding and underdevelopment of teeth. Shallow and flattened orbits to the eyes can cause the eyes to be broadly spaced and bulged. [craniokids.co.za]

  […] eyes, strabismus, receded upper jaw, high and narrow palate. [friendlyfaces.org]

• Prolapse

  The left eye had a perforated corneal ulcer and uveal and vitreous prolapse due to exposure. There was no microcornea, micro-ophtalmia, ptosis, coloboma of the iris or choroid or a cataract. There were no skull, spinal, rib or limb anomalies. [jpgmonline.com]

  A variety of cardiac defects have been reported including mitral valve prolapse, septal defects, and anomalies of the aortic valve. [disorders.eyes.arizona.edu]

• Low Set Ears

  TOD Is also known as terminal osseous dysplasia and pigmentary defects;todpd, odpd, osseous dysplasia, digital, with facial pigmentary defects and multiple frenula;odpf, odpf syndrome; Related symptoms: Pica Hypertelorism Ptosis Flexion contracture Low-set [mendelian.co]

  188400 DiGeorge syndrome 188400 AD low-set ears, short ears, small mouth, submucous or overt palatal cleft, cleft lip, bulbous nose, square nasal tip, short philtrum, micrognathia, Velocardiofacial syndrome 192430 AD Pierre Robin syndrome, cleft palate [widesmiles2.org]

  Turner Syndrome” Autosomal Dominant PTPN11 gene (12q24) Clinical Findings: Growth Development: 80% have short stature Facial Features: Triangular face, hypertelorism, down-slanting eyes, ptosis, strabismus (48%), amblyopia (33%), refractive errors (61%), low-set [slideplayer.com]

  Ears: The child had normal size but low set ears with bilateral pre-auricular tags and leftsided pre-auricular pits. Eyes: Both the eyes showed colobomas in the tipper eyelids and epibulbar dermoids. [jpgmonline.com]

• Irritability

  The local medical treatment of malposition of eyelashes has only the purpose of reducing the irritative symptoms. [oculoplastica.it]

  Thus, the patient will have an extra accessory row of anatomically normal eyelashes, which can cause significant ocular irritation. [doctorlib.info]

Treatment Treatment Options: No known treatment has been reported. [disorders.eyes.arizona.edu]

The local medical treatment of malposition of eyelashes has only the purpose of reducing the irritative symptoms. [oculoplastica.it]

Treatment Approaches for Different Grades of HFM 5. Treatment Plan of Patients With Severe Grade Two 6. Treatment Plan of Patients With Grade Three 7. Conclusions References 1. Monahan R, Seder K, Patel P, Alder M, Grud S, O'Gara M. [orthodontics.pub]

Probst has been an innovator in many refractive surgery techniques that include the treatment of LASIK flap striae, cross cylinder ablation techniques for the treatment of high mixed astigmatism, bioptics for the correction of high hyperopic astigmatism [books.google.de]

[…] medical testing related to Deafness conductive - ptosis - skeletal anomalies: * Concentration -- Home Testing * ADHD -- Home Testing * Ear Infections: Home Testing: o Home Ear Infection Tests o Home Ear Tests o Home Hearing Tests * Home Andropause Tests Prognosis [checkorphan.org]

The prognosis for Type 2 patients is poor, with a high likelihood of neurologic problems and early death. [craniokids.co.za]

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis. J Craniomaxillofac Surg. 2011; 39 (1): 10-6[ DOI ][ PubMed ] 14. [orthodontics.pub]

Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol. 1993;77:642–5. [PMC free article: PMC504607] [PubMed: 8218033] Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y. [ncbi.nlm.nih.gov]

Attempts to repair the skin defect often involve corneal transplantation with poor visual prognosis. The nasolacrimal system is usually absent or malformed. Cryptophthalmos can be either unilateral or bilateral. [doctorlib.info]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Acquired causes and unknown reasons equally subdivide the remaining etiological factors in hearing loss (Khoury et al., 1997). [flandershealth.us]

[…] antimongoloid palpebral fissures Hypoplasia: zygoma/arches mandible (class II) lower lids Ears/EACs TMJ Clefting: palate zygoma Craniofacial Microsomia (Hemifacial Microsomia, OAVD) OculoAuriculoVertebral Dysplasia 1st and 2nd Branchial Arch Malformations Etiology [quizlet.com]

Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275-283. http://www.ncbi.nlm.nih.gov/pubmed/19107148 Jones NC, Lynn ML, Gaudenz K, et al. [rarediseases.org]

Facial dysostoses: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163C:283–94. [PMC free article: PMC3870197] [PubMed: 24123981] Trainor PA, Dixon J, Dixon MJ. [ncbi.nlm.nih.gov]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. [rarediseases.org]

Prevention - Deafness conductive ptosis skeletal anomalies Not supplied. [checkorphan.org]

Flat Frontal-Nasal angle Frontal sinus hypoplasia Class III occlusion Anterior apertognathia Treat between 13 - 16 yrs 1 in 8500 births Genetic Disorders vs Fetal positioning Micrognathia Glossoptosis Horseshoe cleft palate Superiorly placed tongue prevents [quizlet.com]

Surgery for Trichiasis, Antibiotics to prevent Recurrence (STAR) Clinical Trial methodology. Ophthalmic Epidemiol. 2005;12:279-86. Tirakunwichcha S, Tinnangwattana U, Hiranwiwatkul P. [oculoplastica.it]

[…] descent of the tongue into the oral cavity; prevents secondary palate fusion Associated with a syndrome in 50-80% of cases, most commonly Stickler & VCF syndromes 19 Pierre-Robin Sequence Figure Robin sequence. [slideplayer.com]