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Conductive Deafness - Ptosis - Skeletal Anomalies Syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome


  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.com]
  • Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age.[bcmj.org]
  • Oral features occurred in 53 (98%) cases; macrodontia was present in 49 (96%) cases."[kbgfoundation.com]
  • Delayed dentition, enamel dysplasia, and abnormal cusp morphology are often present. Cardiac septal defects may be seen. Genetics Homozygous mutations in LONF1 (19p13.3) segregate with the phenotype.[disorders.eyes.arizona.edu]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • Am Fam Physician. 2007;76(3):405–410. 14. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.[aafp.org]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • The pattern of these features is important when a physician tries to make a formal diagnosis. In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair.[nfed.org]
  • If a heart defect is present, the patient should be followed by a cardiologist in collaboration with the primary physician.[turnersyndrome.co.nz]
  • Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 BardetBiedl Syndrome 605 Campomelic Dysplasia 611 CHARGE Association 618 Brachytelephalangic Type 625 Chromosome Trisomy 13 Syndrome 632 ExostosesMultiple 699 Fanconi Anemia[books.google.com]
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last[checkrare.com]
  • Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017 ).[mendelian.co]
  • Approximately 25% of those surviving show early symptoms which include; anemia, pneumonia, fever, lesions, mucous membrane patches, loss of hair, nail exfoliation, and bone inflammations.[deafed.net]
  • Genes in which mutations can be occasionally associated with anophthalmia/microphthalmia are: PQBP1, some Fanconi anemia genes, Joubert syndrome and Meckel syndrome genes, PORCN, RIPK4, SALL4, DPYD, KIF11, SMAD4, FOXL2, GLI3, OCLN, MAF, CRYBB2, CRYGD,[bredagenetics.com]
Surgical Procedure
  • In conclusion, comprehensive presurgical evaluation with a multidisciplinary approach is of paramount importance in the management of syndromic patients undergoing surgical procedures.[ijmdent.com]
  • Acquired causes of vertebral fusion include inflammatory articular diseases, infectious processes, trauma and surgical procedures (implanted bone graft).[rrnursingschool.biz]
  • The position of the screws was determined prior to the surgical procedure taking underconsideration the degree of mandibular shortening, the location of the tooth germ and the prediction for mandibular growth ( Figure 3b ).[elsevier.es]
  • Before considering a surgical procedure, magnetic resonance imaging of the brain, radiography of the cervical spine, and the assessment of cardiovascular (10% of patients) and genitourinary (9.6% of patients) anomalies should be carried out. 44, 46, 48[pocketdentistry.com]
  • Although underweight tends to persist in children who meet FAS criteria, those with PFAS/ARND diagnoses have higher rates of overweight and obesity by adolescence. [ Fuglestad: 2014 ] Management information can be found in the Portal’s Childhood Obesity[medicalhomeportal.org]
  • J Am Assoc Pediatr Ophthalmol Strabismus 1997; 1:134-137. ‏[books.google.com]
  • Other problems associated with ROP include strabismus, macular distortions, glaucoma, and nearsightedness.[deafed.net]
  • […] spleen, mild to moderate mental retardation in 80%, macrocephaly, sparse, curly and/or slow-growing hair, lack of eyebrows and eyelashes, abnormal skin lesions varying from severe atopic dermatitis to hyperkeratosis/ichthyosis-like lesions Hypotonia, strabismus[en.wikibooks.org]
  • Nearly all affected individuals have bilateral retinal coloboma with less frequent ophthalmologic abnormalities including myopia, hyperopia, ptosis, heterochromia irides, corneal clouding, and strabismus.[dnatesting.uchicago.edu]
  • Michels syndrome: The first case report from India and review of literature 1 Pediatric Ophthalmology and Strabismus Sevices, Jasti V Ramanamma Children's Eye Care Center, L. V.[ijo.in]
  • الصفحة 16 - Pediatric Eye Disease Investigator Group: The clinical spectrum of early-onset esotropia: experience of the Congenital Esotropia Observational Study. Am J Ophthalmol 133:102-108, 2001 3. ‏[books.google.com]
  • There was esotropia of 50-55 prism diopters for both distance and near with dissociated vertical deviation (DVD) and inferior oblique muscle over action in both eyes.[ijo.in]
  • […] syndrome (OMIM 108450), a disorder resembling both Silver-Russell syndrome (OMIM 180860) and Hallermann-Streiff syndrome (OMIM 234100), which consists in asymmetrical short stature, facial anomalies (small nose,mandibular hypoplasia, dental crowding, esotropia[rrnursingschool.biz]
  • Abnormalities 422 Carpal Abnormalities 429 Thumb Abnormalities 437 Acroosteolyses 446 Chapter 7 455 Tarsal Abnormalities 466 Chapter 8 473 Abnormalities of Joint Position 489 Premature Degenerative Joint Disease 496 Osteosclerosis Hyperostosis 510 Multiple Fractures[books.google.com]
  • […] he eats, how much, how often Skin Rashes, birthmarks, dry skin CV Heart murmur, special heart tests (EKG) Endo Hormone problems, diabetes, thyroid disease, weight gain or loss GU Kidney anomalies, renal ultrasound MS Muscle weakness, scoliosis, bone fractures[en.wikibooks.org]
  • There is an increased incidence of all fractures in patients with Turner Syndrome over the age of 45 years . Measurements of bone mineral density should therefore be performed at the initial visit in adults with Turner Syndrome and 3–5 years later.[turnersyndrome.co.nz]
  • […] bone mineral density Corneal dystrophy Retinal degeneration Blue sclerae Congenital hip dislocation Abnormality of epiphysis morphology High myopia Lumbar hyperlordosis Mitral valve prolapse Hyperextensible skin Keratoconus Increased susceptibility to fractures[mendelian.co]
  • Breakage Syndrome Gene: GNAS (20q13.2) Inheritance: Sporadic, mosaic (non-mosaic is suspected to be lethal) Clinical feat: polyostotic fibrous dysplasia (abnormal scarring in bone tissue that is typically confined to one side of the body) that can cause fractures[quizlet.com]
Short Extremities
  • In the first category, the Ellis-van Creveldsyndrome, a common disorder in the Amish population, is a heritable form of dwarfism characterized by short extremities, polydactyly, dysplastic teeth and nails, and multiple frenula binding the upper eyelid[arthritisresearch.us]
  • At Julie Ingelfinger's suggestion, at the end of each panel discussion I have added a comment to highlight the main points as I see them.[books.google.com]
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • Our results suggest that heterozygous mutation of dOpa1 causes loss of visual acuity in Drosophila.[journals.plos.org]
  • The genome-wide localized CNV (GWL CNV) algorithm suggested complete deletions of the following genes on NGS.[jclpca.org]
Pierre Robin Syndrome
  • Figure 10-4: Pierre Robin syndrome: hypoplastic mandible associated with a ventricular septal defect.[arthritisresearch.us]
  • Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere.[books.google.com]
  • Meningitis – Meningitis is a potentially fatal inflammation of the membranes covering the brain and spinal cord. Meningitis may result from infections caused by bacteria and viral agents.[deafed.net]


  • Sleep apnea may be central, obstructive, or of mixed origin; proper workup and assessment are crucial to the establishment of the correct diagnosis and treatment. * Central apnea may result from intracranial hypertension.[pocketdentistry.com]
Delayed Bone Age
  • Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 BardetBiedl Syndrome 605 Campomelic Dysplasia 611 CHARGE Association 618 Brachytelephalangic[books.google.com]
  • Generalized metaphyseal dysplasia and delayed bone age are usually present. The anus may be imperforate and a rectovaginal fistula and cryptorchidism have been reported. Long bones may be malformed as well and most patients are short in stature.[disorders.eyes.arizona.edu]
  • bone age Abnormal spine curvature The name KBG Syndrome is derived from Dr.[kbgfoundation.com]


  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • Treatment Treatment Options: There is no general treatment available and infants sometimes die from laryngeal obstruction in the first days of life. Individual anomalies may be surgically correctable in selected individuals.[disorders.eyes.arizona.edu]
  • […] of these patients, playing an important role in the diagnosis, treatment planning and postsurgical management.[elsevier.es]
  • Orthodontic camouflage treatment was in progress, including mandibular bicuspid extractions with retraction. The patient was referred to this surgeon for evaluation and treatment.[pocketdentistry.com]
  • Treatment - Deafness conductive ptosis skeletal anomalies Not supplied. Resources - Deafness conductive ptosis skeletal anomalies Not supplied.[checkorphan.org]


  • Prognosis: Although these tumors are not malignant, their anatomical location and multiplicity lead to great morbidity and early mortality. The average age of death is 36 years.[quizlet.com]
  • […] 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]
  • Conduction abnormalities have been successfully managed with pacemaker implantation. 6 In cases of severe cardiac dysfunction, heart transplant is an option. 28 Prognosis The visual prognosis for Kearns-Sayre syndrome is relatively good.[eyewiki.aao.org]
  • Mild PVS has a good prognosis, while severe valvular dysplasia of the pulmonary valve may recommend valvulotomy or valvulectomy [ 8 ].[ojrd.biomedcentral.com]
  • When present, seizures may be intractable and associated with a poor prognosis. A 10-month-old child presented with focal status epilepticus in association with a viral infection and a normal brain MRI.[bcmj.org]


  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • Etiology Kearns-Sayre syndrome is a genetic disorder most commonly due to single sporadic deletions in mitochondrial DNA.[eyewiki.aao.org]
  • Margherita Cirillo Silengo Original Paper First Online: 18 June 2009 Received: 11 March 2009 Accepted: 03 June 2009 382 Downloads 4 Citations Abstract Background Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology[link.springer.com]
  • Its etiology is still unknown and is believed to be an autosomal recessive, and X-linked dominant inheritance has also been suggested. In our patient, it was localized and was seen in the anterior cervical region just above the laryngeal prominence.[jclpca.org]
  • Confusion arising from the wide variability of vertebral fusion within affected families has prompted researchers to develop other classification systems, based not only on the location of vertebral fusion but also on the etiology and genetic origin of[rrnursingschool.biz]


  • 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.com]
  • Robert E, Kallen B, Harris J (1996) The epidemiology of orofacial clefts. Some general epidemiological characteristics. J Craniofac Genet Dev Biol 16:234–241 PubMed Google Scholar 15.[link.springer.com]
  • From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations;[ommbid.mhmedical.com]
  • Age-appropriate guidelines for the management of Noonan syndrome are available. 1 Epidemiology Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals.[aafp.org]
  • Epidemiology LS is a rare condition, but the exact birth prevalence is unknown. Not less than 200 patients have been reported and two reviews published [ 1, 4 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution


  • Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological[ommbid.mhmedical.com]
  • Endocrine system Endocrine disorders may present in childhood or may develop over time and present in adulthood.[ 17,18 ] Diabetes mellitus with a complex pathophysiology can occur.[bcmj.org]
  • Retinal evaluation reveals disruption and atrophy of retinal photoreceptors as well as aberrant pigment distribution in all layers of the retina. 4, 5 Spongiform degeneration of the brain has been reported in multiple patients at autopsy. 6 Pathophysiology[eyewiki.aao.org]
  • Votruba M, Moore AT, Bhattacharya SS (1998) Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet 35: 793–800. View Article Google Scholar 9.[journals.plos.org]


  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prevention - Deafness conductive ptosis skeletal anomalies Not supplied.[checkorphan.org]
  • , services, and prevention.[medicalhomeportal.org]
  • Lifestyle education with advice on diet and exercise must be included in a program of prevention of diabetes, osteoporosis, and hypertension.[turnersyndrome.co.nz]
  • Ocular There is no definitive treatment for Kearns-Sayre syndrome although symptomatic and preventative treatments can improve quality of life.[eyewiki.aao.org]

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