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]

• Pathologist

  Others involved with the treatment of these children are audiologists and speech pathologists. Later, they may require a psychiatrist. Feeding difficulties may require the help of a nutritionist. [emedicine.medscape.com]

• Amyloidosis

  Alagille syndrome Cardiovascular Amyloidosis Cardiovascular Arrhythmogenic right ventricular cardiomyopathy (ARVD) Cardiovascular Basal cell nevus syndrome Cardiovascular Brugada syndrome Cardiovascular Cardiomyopathy (HCM/DCM) Cardiovascular Carvajal [genomediagnosticsnijmegen.nl]

• Hyposmia

  At age 4 years he had crowded teeth and hyposmia. Skin was moist with normal pigmentation. Body hair were present but white and fine. Fingernails and toenails were normal. [dev.docslide.net]

• Short Hands

  The characteristic features of heterozygous achondroplasia include short limbs, lumbar lordosis, short hands and fingers, macrocephaly with frontal bossing and depressed nasal bridge. [sonoworld.com]

  Carpenter Syndrome Patients with this autosomal recessive condition have craniosynostosis, syndactyly of the feet, and short hands and fingers with syndactyly of varying degrees. [emedicine.medscape.com]

• Foot Deformity

  SPILT HAND AND FOOT SYNDROME The term ‘split hand and foot’ syndrome refers to a group of disorders characterized by splitting of the hand and foot into two parts; other terms include lobster-claw deformity and ectrodactyly. [sonoworld.com]

• Sparse Eyebrows

  Eyebrows have been described as sparse in one patient. Strabismus and ocular apraxia are present in some children. [disorders.eyes.arizona.edu]

  […] contractures Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Abnormal foot bone ossification Abnormal hand bone ossification Localized skin lesion Disproportionate tall stature Sparse [mendelian.co]

• Hearing Impairment

  Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [genomediagnosticsnijmegen.nl]

  Individuals with chromosome anomalies often have hearing impairment (Tewfik et al., 1997). [flandershealth.us]

  CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS Is also known as ;cdhs; sommer-young-wee-frye syndrome Related symptoms: Autosomal dominant inheritance Hearing impairment Hypertelorism Micrognathia Sensorineural hearing impairment SOURCES: MONDO OMIM UMLS SCTID [mendelian.co]

  Both have hearing loss and dystopia canthorum. [slideplayer.com]

  Moebius Syndrome A condition of facial difference characterized by paralysis of the seventh (sometimes sixth) cranial nerve(s), microtia, and sometimes chest and limb anomalies (extra or webbed fingers or toes), cleft palate, hearing impairment, and a [friendlyfaces.org]

• Blepharoptosis

  Ptosis (or blepharoptosis) is the most common anomaly of the eyelid and presents as an abnormal drooping of the upper eyelid with secondary narrowing of the vertical palpebral fissure of the eye. It can be unilateral or bilateral. [childrenshospital.org]

  These result in the typical facial dysmorphism and include hypertelorism, blepharoptosis, blepharophimosis, and highly arched eyebrows. Ptosis, unilateral or bilateral, can be present. [disorders.eyes.arizona.edu]

  Congenital and acquired blepharoptosis. Curr. Opin. Ophthalmol. 10, 335–339 (1999). 17. Relaix, F., Demignon, J., Laclef, C., Pujol, J., Santolini, M., Niro, C. et al. [nature.com]

• 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]

• Ectopia Lentis

  lentis, familial, 129600 B4GALT7 Ehlers-Danlos syndrome, progeroid type, 1, 130070 SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 DYM Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 MECP2 Encephalopathy [gsdseq.ir]

• Broad Nasal Bridge

  occasional cleft palate, long simple philtrum, thin upper lip, flattened nasal bridge, epicanthus, upturned nose IS Retinoblastoma-1 RB1 13q14.1-q14.2 180200 Retinoblastoma 180200 AD cleft palate, high forehead, prominent eyebrows, broad nasal bridge [widesmiles2.org]

  Orofacial features include expressionless face,impaired eye movements, ptosis, strabismus, broad nasal bridge, small mouth, unilateral tongue hypoplasia, and mild to moderate micrognathia. [rrnursingschool.biz]

  He had broad nasal bridge and tip, deviated nasal tip with, micrognatia, and cleft palate. Bucal frenulae were normal. Ears were small and prominent with lumps of extra tissue on the superior region of the helices and up tilted lobules. [dev.docslide.net]

  Affected males differ from our patients in having frontal and occipital prominence, flat and broad nasal bridge, fusions of tarsal and metatarsal bones especially cuneiforms, abnormally shaped carpals, and extra ossification centers. [docslide.us]

• Small Face

  […] downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. [mendelian.co]

  (Charkins, 1996) Freeman-Sheldon Syndrome A genetic condition of facial difference characterized by microstomia (small mouth), flat mid-face, webbing of the neck, contractures of the hands and fingers, and club feet. [friendlyfaces.org]

  This lethal, autosomal recessive syndrome with a birth prevalence of 1 in 200 000 is characterized by shortening and bowing of the long bones of the legs, narrow chest, hypoplastic scapulae, and large calvarium with disproportionately small face. [sonoworld.com]

• Tremor

  […] kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological Erythermalgia, primary or idiopathic Neurological Familial infantile convulsions with paroxysmal choreoathetosis Neurological Febrile seizures Neurological Fragile-X associated tremor [genomediagnosticsnijmegen.nl]

  Fibromatosis, gingival, 135300 SRCAP Floating-Harbor syndrome, 136140 TSC1 Focal cortical dysplasia, Taylor balloon cell type, 607341 PORCN Focal dermal hypoplasia, 305600 PAX6 Foveal hyperplasia, 136520 FMR1 Fragile X syndrome, 300624 FMR1 Fragile X tremor [gsdseq.ir]

• Delayed Speech and Language Development

  Related symptoms: Autosomal dominant inheritance Hypertelorism Ptosis Depressed nasal bridge Delayed speech and language development SOURCES: MONDO UMLS OMIM More info about CRANIOSYNOSTOSIS 4; CRS4 High match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL [mendelian.co]

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]