Present case had multiple clinical manifestations with more pronounced oral features with digital and few facial features. Some of these facial features may not be present or may be of different intensities. [ijdr.in]

He also presented severe coloboma and congenital heart disease. Brain malformations were also present as well as abnormal inner ear structures. [doi.org]

She presented with typical features of OFD1 which included thin wiry hairs, frontal bossing, depressed nasal bridge and alar hypolplasia [Figure 1]. Thin wiry hairs were also seen in the present case. [jisppd.com]

Apparently, the type of intestinal polyposis present in this condition becomes. .. [nejm.org]

All the members of the current report presented with bifid tongue and the 2 elder siblings presenting with characteristic nodular swellings on the tongue surface. [scialert.net]

• Multiple Congenital Anomalies

  congenital anomalies-hypotonia-seizures syndrome type 1 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Myhre syndrome Native American myopathy Neuroaxonal neurodegeneration, infantile, with facial dysmophism [qlinics.com]

  Cristina Skrypnyk UMF Oradea; Diagnosis and management of patients with mental retardation and multiple congenital anomalies – Iaşi Medical Genetics Center’s experience; Cristina Rusu (1), M. Voloşciuc (1), E. Braha (1), L. Butnariu (1), M. [anbraro.wordpress.com]

  congenital anomalies-hypotonia-seizures syndrome type 1 (PIGN) Cost: 30000.00 Test Offer Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (B3GAT3) Cost: 30000.00 Test Offer Myhre syndrome (SMAD4) Cost: 30000.00 [dnalabsindia.com]

  General manifestations Along with congenital sensorineural deafness, multiple congenital anomalies are associated with this syndrome. The widely spaced medial canthi (dystopia canthorum) are characteristic of WS1. [emedicine.medscape.com]

  Congenital Anomalies-Hypotonia-Seizures Syndrome 2 1 Multiple Endocrine Neoplasia, Type 1 2 Multiple Endocrine Neoplasia, Type 2A 3 Multiple Endocrine Neoplasia, Type 2B 2 Multiple Endocrine Neoplasia, Type IV 1 Multiple Epiphyseal Dysplasia 1 3 Multiple [preventiongenetics.com]

• Periodontitis

  Hart, Do X‐linked diseases affect periodontal health?, Periodontology 2000, 61, 1, (266-278), (2012). [doi.org]

  SNAP29 synaptosomal-associated protein, 29kDa Cerebral dysgenesis, neuropathy, ichthyosis, [MIM 609528] SPG20 spastic paraplegia 20 (Troyer syndrome) Troyer syndrome [MIM 275900] TPP1 Palmitoyl-protein thioesterase Ceorid lipofuscinosis 1 [MIM 607998], Periodontitis [tigem.it]

  2 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 4 Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4 Ehlers-Danlos Syndrome, Musculocontractural Type 3 Ehlers-Danlos Syndrome, Musculocontractural Type 2 1 Ehlers-Danlos Syndrome, Periodontal [preventiongenetics.com]

• Liver Fibrosis

  fibrosis resulting from ductal plate malformation). [link.springer.com]

• Left Ventricular Dysfunction

  Ramanathan, Anesthetic considerations in a parturient with Oral-Facial-Digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction, International Journal of Obstetric Anesthesia, 23, 2, (182), (2014). John E. [doi.org]

• Short Arm

  This gene is located on the short arm of the X chromosome (Xp22.3-22.2) and governs the production of (codes for) the protein OFD I [7, 8, 9]. [medresearch.in]

  arm of X-chromosome (Xp22.2-Xp22.3). [7] The mutation analysis has identified the gene as CXORF5, which was later named as OFD1 gene. [jisppd.com]

  This gene is located on the short arm of the X chromosome (Xp22.3-22.2) and governs the production of (codes for) the protein OFD I. [socialstyrelsen.se]

  The gene responsible for OFD type I syndrome was identified on the short arm of the X chromosome [ 13 ]. [doi.org]

• Bowing of Tibia

  All affected cases presented with skeletal dysplasia with long bone bowing and tibia hypoplasia and only two cases displayed associated orofaciodigital findings. [doi.org]

• Alopecia

  The facial abnormalities most commonly include aplasia of the alar cartilage, ocular hypertelorism, strabismus and alopecia ( King and Sanares, 2002 ; Mihci et al ., 2007 ). [scialert.net]

  The facial abnormalities includes ocular hypertelorism, aplasia of the alar cartilage, alopecia and strabismus. [1],[3] Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. [jisppd.com]

  […] progeria Hydranencephaly, Fowler type Hydrolethalus syndrome Hypermethioninemia due to adenosine kinase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperphosphatasia with mental retardation syndrome Hypogonadism, alopecia [qlinics.com]

  Alopecia, usually partial, is an occasional finding. Alopecia following the lines of Blaschko has been described [ Boente et al 1999 ]. Liver, pancreatic, and ovarian cysts may be observed, but only in those who have renal cysts as well. [ncbi.nlm.nih.gov]

  Hypodontia Finger syndactyly Elevated hepatic transaminase Facial asymmetry Hamartoma Dystonia Multicystic kidney dysplasia Coarse hair Meningocele Median cleft lip Cone-shaped epiphysis Stage 5 chronic kidney disease Abnormality of the pancreas Ranula Alopecia [mendelian.co]

• Behavior Disorder

  Disorders 3 Epileptic encephalopathy, childhood-onset 6 Epileptic encephalopathy, early infantile, 1 6 Epileptic Encephalopathy, Early Infantile, 10 5 Epileptic Encephalopathy, Early Infantile, 11 7 Epileptic Encephalopathy, Early Infantile, 12 4 Epileptic [preventiongenetics.com]

• Confusion

  II, Mohr syndrome [3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome [4] Type V, Thurston syndrome [5] Type VI, Varadi-Papp syndrome [6] Type VII, Whelan syndrome [7] Type VIII, Oral-facial-digital syndrome, Edwards type [8] (not to be confused [en.wikipedia.org]

  Oxycephaly Joint contracture of the hand Left ventricular hypertrophy Cutaneous finger syndactyly Delayed cranial suture closure Hyperglycemia Broad hallux Bicuspid aortic valve Accelerated skeletal maturation Broad thumb Postaxial foot polydactyly Confusion [mendelian.co]

  But the condition can quickly progress to shock, which is marked by falling blood pressure and body temperature, confusion, clotting abnormalities and bleeding into the skin. Blood poisoning is a medical emergency and can be fatal if left untreated. [mynutritionhouserewards.com]

Careful physical and genetic workups are, therefore, necessary. As the delineation of syndromes continues, the classification of this complex condition will evolve. [medlink.com]

Dilemmas in the interpretation of diagnostic accuracy studies on presurgical workup for epilepsy surgery. Epilepsia 2012;53(8):1294-302. Download from wiley Burton C, Richardson G, Sharpe M. [york.ac.uk]

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

Treatment takes approximately four hours and most individuals require three treatments a week. [socialstyrelsen.se]

Although there is no one treatment for OFDS 2, there may be ways for a team of specialists to manage the signs and symptoms present in each individual. [rarediseases.info.nih.gov]

Figure 2 Figure 1: Algorithm in the diagnosis of constipation Treatment Conservative Treatment In constipation due to colonic inertia, the diets of patients are regulated. Simple laxatives and enema are used. Exercises conducted. [ispub.com]

La prognosi delle femmine affette è estremamente variabile e legata alla ampia gamma di anomalie associate. Anneren, G., Arvidson, B., Gustavson, K.-H., Jorulf, H., Carlsson, G. [med2000eco.it]

Prenatal ultrasound examination was very useful in the management, prognosis and detection of this case. The prenatal diagnosis is necessary for the detection of fetal abnormalities to all pregnancies and especially for the risk categories. 1. [medresearch.in]

Marie Beylot-Barry, Béatrice Vergier, Marc Maynadié, Christine Bodemer, Olivier Hermine, Martine Bagot, Nicole Brousse, Sylvie Fraitag Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare condition usually considered to have a favourable prognosis [medicaljournals.se]

The cost-effectiveness of different chemotherapy strategies for patients with poor prognosis advanced colorectal cancer (MRC FOCUS). Value in Health 2012;15(1):22-31. Martin R, Muûls M, de Pruex L, Wagner U. [york.ac.uk]

The case of linguistics: a prognosis. British Journal of Disorders of Communication, 7, 3-16. Crystal, D. (1981). Clinical linguistics. Vienna & New York: Springer. Crystal, D. (1984). Linguistic encounters with language handicap. Oxford: Blackwell. [speech-language-therapy.com]

Etiology Treacher Collins syndrome is inherited as an autosomal dominant trait with variable expressivity and high penetrance. A recessive form has also been described. [emedicine.medscape.com]

An etiologic evaluation of children with short stature in Gorgan (Northeast Iran), 2005. J. Medical Sci., 7: 1206-1209. CrossRef Direct Link Motlagh, M.G., G.R.J. Khaniki and H. Adiban, 2007. [scialert.net]

Etiology Various factors cause constipation in adults and in children. There may be pain due pelvic floor tension during defecation. Usually this condition is thought to be the predisposing factor of childhood. [ispub.com]

Human papilloma virus (HPV) is not implicated in the etiology of Warthin’s tumor of the parotid gland. Acta Otolaryngol 133: 972-976 (2013) Teymoortash A, Bohne F, Jonsdottir T, Hoch S, Eivazi B, Roessler M, Werner JA, Mandic R. [jawerner.de]

Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes. [wikivisually.com]

Aylsworth, Classification, Epidemiology, and Genetics of Orofacial Clefts, Clinics in Plastic Surgery, 10.1016/j.cps.2013.12.003, 41, 2, (149-163), (2014). [doi.org]

Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic councelling and treatment. Eur J Orthod 2004;26:17-24. 5. Shprintzen RJ, Goldberg RB, Sidoti EJ. [jorr.org]

Epidemiology Constipation is seen in young and middle aged adults with a 3:1 ratio of women to men, whereas with same distribution older ages. [ispub.com]

The overall frequency of either p.R59H or 1622-1627insG was 57.7% of the disease-causing alleles, and this epidemiological study suggested a carrier frequency of 1:58 for this population 31. [centogene.com]

Chronic idiopathic Constipation: Pathophysiology and Treatment. J Clinic Gastroenterology 1996;22(3):190-196 3. Ozturk R, Rao SSC. [ispub.com]

This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth. [jisppd.com]

Pagina 234 - Centers for Disease Control and Prevention: 1994 Revised Classification System for Human Immunodeficiency Virus Infection in Children Less Than 13 Years of Age, MMWR, 43, 1-19, No. ‎ [books.google.it]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [mynutritionhouserewards.com]

Regular appointments with an ear-nose-throat specialist are recommended to prevent persistent ear problems. [socialstyrelsen.se]

Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. [ghr.nlm.nih.gov]