It presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. [medical-dictionary.thefreedictionary.com]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [dokumen.tips]

Clinical Presentation BPES presents at birth with the four cardinal eyelid malformations: blepharophimosis, ptosis, epicanthus inversus, and telecanthus (See Figure 1). [eyewiki.aao.org]

This patient also presented with the clinical hallmarks of Ohdo syndrome MKB type. Previously, three other specific missense mutations in MED12 have been described in patients with FG syndrome and Lujan-Fryns syndrome. [ashg.org]

Typically, four major facial features are present at birth: narrow eyes, droopy eyelids, an upward fold of skin of the inner lower eyelids and widely set eyes. [rarediseases.org]

• Anemia

  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]

  […] or<strong>de</strong>n alfabético www.orpha.net www.orphadata.org Page 2 and 3: METODOLOGÍA Orphanet proporciona u Page 4 and 5: Número Enfermedad ORPHA Aciduria D Page 6 and 7: Número Enfermedad ORPHA 99114 Agen Page 8 and 9: Número Enfermedad ORPHA Anemia [yumpu.com]

• Weight Gain

  Assessment of maternal health status during pregnancy with the involved child should include questions regarding use of tobacco, alcohol and drugs (prescribed and illicit); lifestyle or other risks for sexually transmitted diseases; weight gain or loss [aafp.org]

• Regurgitation

  […] nerve Glutamine deficiency, congenital Renier Gabreels Jasper syndrome Malignant hyperthermia arthrogryposis torticollis Townes-Brocks syndrome TMEM165-CDG (CDG-IIk) Nail-patella syndrome Schneckenbecken dysplasia Ataxia-oculomotor apraxia type 4 Mitral regurgitation [checkrare.com]

• Macrostomia

  X-linked Absence of gluteal muscle Myoclonic epilepsy with ragged red fibers Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG Ablepharon macrostomia [checkrare.com]

• Blepharoptosis

  […] blepharophimosis syndrome blepharophimosis-intellectual disability syndrome, Ohdo type Ohdo-Madokoro-Sonoda syndrome Ohdo Blepharophimosis Syndrome BMRS, Ohdo type Blepharophimosis syndrome, Ohdo type Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis [wikidata.org]

  Keywords: Humans; Hearing Loss; Mental Retardation; Blepharophimosis; Blepharoptosis; Child, Preschool; Infant; Infant, Newborn; Male Rights: © 2003 Lippincott Williams & Wilkins RMID: 0020031234 DOI: 10.1097/00019605-200304000-00007 Published version [digital.library.adelaide.edu.au]

  Blepharophimosis syndrome Ohdo type 0 *Abnormalities, Multiple *Blepharoptosis *Heart Defects, Congenital *Intellectual Disability *Blepharophimosis. [reference.md]

  Ohdo Blepharophimosis Background Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities (see entry Learning disability ) associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis [contact.org.uk]

  Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus – a syndrome with no name. American Journal of Ophthalmology, 72, 625–632. CrossRef PubMed Google Scholar Krastinova, D., & Jasinski, M. (2003). [link.springer.com]

• Strabismus

  The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus, 11, 173–177. CrossRef PubMed Google Scholar De Baere, E., Van Roy, N., Speleman, F., et al. (1999). [link.springer.com]

  The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus. 2003;11:173–7. PubMed ↑ 12.0 12.1 12.2 12.3 Sa HS, Lee JH, Woo KI, Kim YD. [eyewiki.aao.org]

  Krauss Herman Holmes syndrome 0 *Abnormalities, Multiple *Foot Deformities *Hypertelorism *Strabismus *Blepharophimosis. [reference.md]

  Other minor facial features frequently observed in both types include “lazy” eye (amblyopia), crossed eyes (strabismus), low-set ears, a short distance between the upper lip and nose, and a broad nasal bridge. [rarediseases.org]

  J Pediatr Ophthalmol Strabismus 35:271276.Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L,Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M,NicolinoM, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D,Gasparini [myslide.es]

• Prolapse

  […] chromosome; inherited in X-linked manner so males are more severely affected Macrocephaly; large ears; enlarged testicles after puberty; hyperextensible fingers Autism/autistic- like behaviors; developmental delay, especially speech; clumsiness; mitral valve prolapse [aafp.org]

  Multiple pterygium syndrome Escobar type Severe congenital nemaline myopathy Epiphyseal dysplasia multiple with early-onset diabetes mellitus Gyrate atrophy of choroid and retina Calloso-genital dysplasia Sengers syndrome Trichothiodystrophy Mitral valve prolapse [checkrare.com]

• Alopecia

  McPherson Clemens syndrome Malignant hyperthermia susceptibility type 3 Oslam syndrome L-arginine:glycine amidinotransferase deficiency Lin-Gettig syndrome Alopecia-intellectual disability syndrome Tabatznik syndrome Persistent Mullerian duct syndrome [checkrare.com]

• Hypertrichosis

  Acrokeratoelastoidosis of Costa Camptodactyly joint contractures and facial skeletal dysplasia Sebaceous gland hyperplasia, familial presenile Pentosuria Xanthinuria type 2 Renal hypomagnesemia-6 Deafness, autosomal dominant nonsyndromic sensorineural 3 Hypertrichosis [checkrare.com]

• Nystagmus

  A retrospective analysis of BPES patients also identified amblyopia (in 41% of patients), refractive errors (34%), strabismus (20%), and nystagmus (6%). [eyewiki.aao.org]

  Hum Mol Genet. 2015 Jul 1;24(13):3742-51 Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination Isakov O, Lev D, Blumkin L, Celniker G, Leshinsky-Silver E, Shomron N. [variantyx.com]

  […] hypoplasia type 4 Netherton syndrome Atelosteogenesis type 2 Alpha-mannosidosis Emery-Dreifuss muscular dystrophy, X-linked Dandy-Walker like malformation with atrioventricular septal defect IRVAN syndrome Syngnathia cleft palate Episodic ataxia with nystagmus [checkrare.com]

• Dysarthria

  […] refractive errors Spinocerebellar ataxia autosomal recessive 7 Agammaglobulinemia, non-Bruton type IL12RB1 deficiency MYD88 deficiency Goldmann-Favre syndrome Usher syndrome, type 1 Progressive deafness with stapes fixation Sensory ataxic neuropathy, dysarthria [checkrare.com]

• Multiple Renal Cysts

  Also observed in GTPTS are flexion contractures of the hips and knees, club feet, agenesis of the corpus callosum with microcephaly, and hydronephrosis and/or multiple renal cysts. [karger.com]

More Types of Blepharophimosis intellectual disability syndromes » Treatments See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal information: Causes of Intellectual disabilities Similar Topic Articles [familydiagnosis.com]

/contact.org.uk/medical-information/conditions/o/ohdo-syndrome-%E2%88%92-saybarberbiesecker-type/ OHDO syndrome − Say/Barber/Biesecker Type | Contact A description of Ohdo syndrome − Say/Barber/Biesecker Type with information on symptoms, causes and treatment [bamtoi.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients. [rarediseases.org]

Blepharitis in the United States 2009: a survey-based perspective on prevalence and treatment. Ocul Surf. 2009;7:S1–S14. [tearfilm.org]

Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ... [kegg.jp]

Patients with premature ovarian insufficiency, who desire children, should be counseled about their options including cryopreservation of ovarian tissue, oocyte donation, and adoption.[20] BPES Video: [[1]] Prognosis Excellent eyelid surgery results have [eyewiki.aao.org]

Common Syndromes Associated with Mental Retardation Diagnosis Incidence Etiology, including inheritance Clinical manifestations and early recognition Associated conditions Diagnostic evaluation* Prognosis Special considerations Down syndrome 1 in 600 [aafp.org]

Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]

A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. [doi.org]

Premature ovarian insufficiency in BPES can be managed similarly to other etiologies; hormone replacement therapy can be used to manage symptoms of hypoestrogenism. [eyewiki.aao.org]

Congenital malformation H01795 Blepharophimosis-mental retardation syndrome Ohdo syndrome Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features [kegg.jp]

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]

Epidemiology Subcommittee of the International Dry Eye WorkShop. The epidemiology of dry eye disease: report of the Epidemiology Subcommittee of the International Dry Eye WorkShop. (2007). Ocul Surf. 2007;5:93–107. 47. Gipson IK. [tearfilm.org]

Relevant External Links for MED12 Genetic Association Database (GAD) MED12 Human Genome Epidemiology (HuGE) Navigator MED12 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MED12 No data available for Genatlas for MED12 Gene A recurrent [genecards.org]

Khoury et al., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675. PubMed CrossRef Google Scholar Verloes, A., C. Elmer, D. [link.springer.com]

Pathophysiology The phenotype of BPES can be traced back to dysfunction or absence of the FOXL2 gene product. FOXL2 is a single gene exon expressed in the mesenchyme of developing eyelids and ovaries. [eyewiki.aao.org]

The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. [ghr.nlm.nih.gov]

HOLMES, M.D., is professor of pediatrics and preventive medicine at the University of Kansas Medical Center. Address correspondence to Grace E. [aafp.org]

Prompt surgical correction of the eyelid malformations can help prevent visual impairment from amblyopia, but later surgeries allow for more precise ptosis correction. For this reason, the exact timing of eyelid surgery is controversial. [eyewiki.aao.org]