Presentation
The purpose of this report is to present a second instance of mother-daughter transmission of FOS, and thereby further delineate the clinical findings in this rare condition. [deepdyve.com]
Hypertelorism was present in 4 of 6 patient, which is opposite to the hypotelorism typical of non-syndromic trigonocephaly. [unboundmedicine.com]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]
The treatment is always surgical and is based on each patients specific phenotypic presentation. [7] Presentation [ edit ] CT-scan of the skull of a patient with coronal synostosis, orbital hypertelorism, and facial asymmetry as part of craniofrontonasal [en.wikipedia.org]
Entire Body System
- Lymphedema
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as microcephaly, lymphedema, chorioretinal dysplasia syndrome, mlcrd syndrome, microcephaly and chorioretinopathy with or without mental retardation [mendelian.co]
Renal Anomalies Syndrome Hypogonadotropic Hypogonadism 3 With Or Without Anosmia Intellectual Disability-Polydactyly-Uncombable Hair Syndrome Isolated Sedoheptulokinase Deficiency Isolated Trigonocephaly Kennerknecht Syndrome Koolen-De Vries Syndrome Lymphedema [familydiagnosis.com]
Syndrome Microcephaly Albinism Digital Anomalies Syndrome microcephaly and chorioretinopathy 1 + microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome microcephaly with or without chorioretinopathy, lymphedema [rgd.mcw.edu]
MT-TF, MT-ND5, MT-TK, MITO Melnick-Needles-Syndrom FLNA, Merosin-deficient CMD LAMA2 Metachromatische Leukodystrophie ARSA Metaphyseal chondrodysplasia, Schmid type COL10A1 Microcephaly ASPM, SLC25A19, CEP152 MIDAS-Syndrom HCCS, HCCS Milroy Disease/Lymphedema-Dystichiasis [meduniwien.ac.at]
- Anemia
Anemia, Complementation Group P; FANCP OMIM:615272 Fanconi Anemia, Complementation Group Q; FANCQ OMIM:617244 Fanconi Anemia, Complementation Group R; FANCR OMIM:617883 Fanconi Anemia, Complementation Group S; FANCS OMIM:616435 Fanconi Anemia, Complementation [informatics.jax.org]
A CELLULE FALCIFORMI BLACKFAN-DIAMOND, ANEMIA DI ANEMIA CONGENITA IPOPLASTICA FANCONI, ANEMIA DI PANCITOPENIA DI FANCONI ANEMIE SIDEROBLASTICHE METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI METAEMOGLOBINEMIA CONGENITA EREDITARIA RD0010 SINDROME [amaram.it]
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Cushing Syndrome + Cutis Laxa-Marfanoid Syndrome Cutis Verticis Gyrata and Mental Deficiency Cyprus Facial Neuromusculoskeletal Syndrome Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia [rgd.mcw.edu]
- Localized Pain
) localized pain, unspecified type - code to pain by site, such as: abdomen pain ( R10.- ) back pain ( M54.9 ) breast pain ( N64.4 ) chest pain ( R07.1- R07.9 ) ear pain ( H92.0- ) eye pain ( H57.1 ) headache ( R51 ) joint pain ( M25.5- ) limb pain [icd10data.com]
Face, Head & Neck
- Broad Nasal Bridge
nasal bridge, bulbous nasal tip, and everted lower lip). [ncbi.nlm.nih.gov]
Neurologic
- Poor Coordination
coordination Tics Hypertonia Gait ataxia Kyphoscoliosis Atrial septal defect Hypoplasia of the corpus callosum Myalgia Edema Anteverted nares Anxiety Amenorrhea Optic atrophy Difficulty walking Distal muscle weakness Pallor Distal sensory impairment [mendelian.co]
Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. [ncbi.nlm.nih.gov]
- Tremor
Rare Symptoms - Less than 30% cases Long philtrum Fibroadenoma of the breast Adult onset Mandibular prognathia Hypothyroidism Reduced visual acuity Narrow mouth Depressed nasal bridge Tremor Wide nasal bridge Varicocele Kyphosis Retinopathy High palate [mendelian.co]
Congenital OMIM:136520 Foveal Hypoplasia 1; FVH1 OMIM:609218 Foveal Hypoplasia 2; FVH2 OMIM:136540 Fragile Site 10q23 OMIM:136580 Fragile Site, Distamycin A Type, Rare, Fra(16)(q22.1); FRA16B OMIM:300624 Fragile X Syndrome; FXS OMIM:300623 Fragile X Tremor [informatics.jax.org]
- Dysarthria
[…] present with incompentent or unstable upper cspine downes and RA (50%), falls in elderly, and mva in young sxs of upper cervical ligamentous instabilty: occipital HA's and numbness sometimes wtih severe restriction of cspine AROM. dizziness, diplopia, dysarthria [quizlet.com]
Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Feeding difficulties and Abnormal heart morphology, related diseases and genetic alterations Dysarthria and Psychosis, related diseases [mendelian.co]
- Akinesia
Deformation Sequence 1; FADS1 OMIM:618388 Fetal Akinesia Deformation Sequence 2; FADS2 OMIM:618389 Fetal Akinesia Deformation Sequence 3; FADS3 OMIM:618393 Fetal Akinesia Deformation Sequence 4; FADS4 OMIM:300073 Fetal Akinesia Syndrome, X-Linked OMIM [informatics.jax.org]
Treatment
Most exciting of all, more sophisticated treatment methods have evolved over the past 20 years. The age at presentation determines the treatment. If possible, provide early treatment and direct it at the cranial vault. [emedicine.medscape.com]
This however carries a greater risk of premature termination of the pregnancy. [16] Treatment [ edit ] There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression. [en.wikipedia.org]
The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment. [books.google.de]
Nine-month results of intravitreal bevacizumab versus triamcinolone for the treatment of diffuse diabetic macular oedema: a retrospective analysis. [augenklinik.med.tum.de]
Prognosis
PMID: 15185114 Prognosis Bennett KG, Liang F, Ranganathan K, Muraszko KM, Vercler CJ, Buchman SR J Craniofac Surg 2018 Jan;29(1):56-61. doi: 10.1097/SCS.0000000000004044. [ncbi.nlm.nih.gov]
Patients with type I have the best long-term prognosis, whereas those with types II and III have neurologic compromise and die young. [12] Saethre-Chotzen Syndrome This is an autosomal dominant condition with full penetrance. [emedicine.medscape.com]
Etiology
Join now to see the full profile Abstracts/Posters Trying to unravel the etiology of multiple midline congenital anomalies misdiagnosed as VACTERL Pereira EM, Ramos MP, Greally JM, Marion RW, Am Soc Human Genetics, 63rd annual meeting, Boston, MA, 1/1 [doximity.com]
Practically all categories in the chapter could be designated 'not otherwise specified', 'unknown etiology' or 'transient'. [icd10data.com]
Etiology J Craniofac Surg 2018 Jan;29(1):72-75. doi: 10.1097/SCS.0000000000004058. [ncbi.nlm.nih.gov]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]
As such there is little information and no consensus in the published literature regarding the epidemiological statistics. [en.wikipedia.org]
Choroidal Neovascularisa-tion in Pathological Myopia: Epidemiological Data from a Health Services Research Study Conducted in Germany. Klin Monbl Augenheilkd. 2013 May 13. [Epub ahead of print] German. [augenklinik.med.tum.de]
Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted. [ncbi.nlm.nih.gov]
Pathophysiology
Despite intensive research in numerous and very disparate medical disciplines there are still no generally accepted pathophysiologic concepts for many headache syndromes. [link.springer.com]
Prevention
HealthWorks: Medicine, Prevention, Wellness Marion RW, The Journal News 1/1/2010 16 more in this section... [doximity.com]
It must be performed with care to prevent any neurologic problems. Spinal fusion should be performed, and cord pressure should be decompressed. [emedicine.medscape.com]
Craniosynostosis correction: The preferred age for this procedure is between 6–9 months of age. [17] Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents [en.wikipedia.org]
Clin exp optometry (submitted) Lohmann C P, Lindenschmid A, Maier M, Specht H: New Topical Medication to prevent Dry Eye Symptoms After Epi-Lasik. Journal of Cataract and Refractive Surgery. [augenklinik.med.tum.de]