Congenital heart defect may be present. Miller acrofacial dysostosis is thought to be inherited as an autosomal recessive trait and is apparent at birth. [accessanesthesiology.mhmedical.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Cleft palate was present in nine out of 10 cases, cleft lip only in two cases. [jomfp.in]

The first number indicates a trait as present, the second number in- cludes the cases where the trait was mentioned at all, present or absent. Therefore the second number is sometimes higher than the first one. [docslide.com.br]

• Surgical Procedure

  Treatment Generally, the treatment of BWS involves a combination of symptom management, surgical procedures, and remaining vigilant about the possibility of tumor formations. [verywellhealth.com]

  It is recommend that additional tissue be collected from patients with suspected Beckwith-Wiedemann syndrome, in conjunction with other surgical procedures when possible, so further testing can be done. [chop.edu]

• Trisomy 21

  21 and an increased risk for trisomy 13/18+NT (1/356) (The Prisca Typolog software GmBH, Germany). [gynecology-obstetrics.imedpub.com]

  PRS can be associated with several genetic disorders including trisomy 21, trisomy 13 [ 12 ], 46,XX/XY del(22)(q11), del(4)(q31), del(4)(p-), inv(9)(p11;q12), inv(9)(p11q13), t(X;2) and del(14(qter) [ 9 ]. [radiologykey.com]

• High Arched Palate

  Children with WSS will often display some of the following: long eyelashes, developmental delays, hairy arms close to the elbow, hypotonia, motor delays, unusual facial features (dysmorphism), feeding challenges, and a high arched palate. [wiedemannsteiner.com]

  Patients often also show low-set ears, long philtrum, thin vermilion, micrognathia, high arched palate, and anomalies of the dentition[21,27-32]. Figure 1 shows a patient with WDSTS who has come to our observation. [wjgnet.com]

  arched palate, adenoma sebaceum on the chin and in the nasolabial region, and a webbed neck. [jmg.bmj.com]

• Macrostomia

  club hands and hypoplastic or absent thumbs Figure 4 Postmortem photograph of the fetus and radiological examination showing small atypical head, underdevelopment of the jaw area and cheek, macrostomia, bilateral radial aplasia, absence/hypoplasia of [gynecology-obstetrics.imedpub.com]

  Figure 1: (a) Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge and macrostomia; (b) Profi le view showing cochlear implant and beak-shaped nose; (c) Intraoral view showing oligodontia and ankyloglossia; (d) Lower limbs showing [jomfp.in]

• Lower Lid Ectropion

  lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. [orpha.net]

  Genee-Wiedemann syndrome: A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar [findexpertmd.com]

  Clinical aspects Craniofacial anomalies include malar hypoplasia with micrognathia, cleft lip or palate; downslanting palpebral fissures with lower-lid ectropion; eyelid coloboma; absent superior orbital ridge; hypoplastic, low-set ears. [accessanesthesiology.mhmedical.com]

  lid ectropion · Malar hypoplasia · Micrognathia Gastrointestinal · Midgut malrotation · Gastric volvulus Genitourinary · Renal anomalies Prognosis: Normal intelligence. [thefetus.net]

  Malar hypoplasia and lower lid ectropion were found in all patients. Cleft palate was present in nine out of 10 cases, cleft lip only in two cases. [jomfp.in]

• Cup-Shaped Ears

  Rare diseases Search Search for a rare disease Postaxial acrofacial dysostosis Disease definition Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped [orpha.net]

  Genee-Wiedemann syndrome: A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar [findexpertmd.com]

  The craniofacial malformations may include malar hypoplasia, micrognathia, cleft palate, small, protruding, “cup-shaped” ears, eye colobomas and ptosis, and ectropion. [accessanesthesiology.mhmedical.com]

  Craniofacial malformations might consist of underdevelopment of the cheekbones (malar hypoplasia); an unusually little mandible (micrognathia); insufficient closure of the roofing of the mouth (cleft taste buds); little, sticking out, “cup-shaped” ears [valleyfamilymedicineurgentcarecenter.com]

  Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities. [link.springer.com]

• Low Set Ears

  Clinical aspects Craniofacial anomalies include malar hypoplasia with micrognathia, cleft lip or palate; downslanting palpebral fissures with lower-lid ectropion; eyelid coloboma; absent superior orbital ridge; hypoplastic, low-set ears. [accessanesthesiology.mhmedical.com]

  Downslanted palpebral fissures ; Ectropion ; Eyelid coloboma ; Growth delay ; Hypoplasia of the radius ; Hypoplasia of the ulna ; Low-set ears ; Malar flattening ; Micrognathia ; Micropenis ; Midgut malrotation ; Pectus excavatum ; Postnatal growth [mousephenotype.org]

  Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities. [link.springer.com]

• Withdrawn

  Micropenis ; Midgut malrotation ; Pectus excavatum ; Postnatal growth retardation ; Pyloric stenosis ; Radioulnar synostosis ; Short thumb ; Supernumerary nipple ; Supernumerary vertebrae ; Syndactyly Associated Genes DHODH Mouse Orthologs Dhodh (Withdrawn [mousephenotype.org]

• Broad Nasal Bridge

  They include underdeveloped cheekbones, a small jaw, cleft palate, cup shaped ears, a cleft lip, broad nasal bridge and the absence of tissue from the lower eyelids. Breathing and feeding difficulties are often a consequence of a small jaw. [fdna.health]

  nasal bridge, and low-set ears)[47]. [wjgnet.com]

  Clinical: Clefts and fibroma of tongue; polydactylia; broad nasal bridge; narrow-arched palate ; short humerus, femur, and tibia; irregular teeth; hypotonia; mental retardation; deafness; thin and fair hair; cerebellar atrophy. Anneren G, et al. [dentisty.org]

  Our patients shares several of the features of KMT2A-associated WSS, including postnatal growth retardation, developmental delay, wide nasal bridge, broad/bulbous nasal tip, and downslanted palpebral fissures [9, 30]. [bmcmedgenet.biomedcentral.com]

• Frontal Bossing

  Figure 1: (a) Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge and macrostomia; (b) Profi le view showing cochlear implant and beak-shaped nose; (c) Intraoral view showing oligodontia and ankyloglossia; (d) Lower limbs showing [jomfp.in]

  bossing Dysphagia Pectus excavatum Volvulus Tracheomalacia Short thumb Finger syndactyly Widow's peak Abnormal dermatoglyphics Short sternum Infra-orbital crease Epiphyseal dysplasia Hypoplasia of the iris Macular hypoplasia Bicornuate uterus Diaphragmatic [mendelian.co]

• Seizure

  […] and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect, ossium primum, and endocardial cushion defect), lung disease from chronic infection, supernumerary nipples, single umbilical artery, absence of the hemidiaphragm, and seizures [whonamedit.com]

  Reynolds, Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics, 31, 3, (701-703), (2005). [doi.org]

  Erbumine (Aceon),Synthetic conjugated estrogens (Cenestin),Dalmane (Flurazepam),Promethazine HCl and Phenylephrine HCl (syrup) (Phenergan Vc) dosage(mg): 46; 10,6; 60,7; 80; 35,9 Do Not Use viagra if: Genee-Wiedemann syndrome,Arthrogryposis epileptic seizures [hotelmeridiana.com]

  Musculoskeletal disease hsa04750 Inflammatory mediator regulation of TRP channels H01392 Arthrogryposis, mental retardation, and seizures Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder [kegg.jp]

Precautions before anesthesia Complete preoperative workup for associated cardiac anomaly must be conducted. The evaluation of the airway should encourage to ask for an anesthesia consultation. [accessanesthesiology.mhmedical.com]

Pfizer Grant/research funds Other; Takeda Grant/research funds Other Sections Beckwith-Wiedemann Syndrome Overview Practice Essentials Pathophysiology Epidemiology Prognosis Patient Education Show All Presentation History Physical Causes Show All DDx Workup [emedicine.medscape.com]

Management and treatment The patients do not usually need surgical treatment, but sometimes need hearing aids. Logopedic treatment might be helpful. [orpha.net]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.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. [resourcerepository.org]

Prognosis - Genee-Wiedemann syndrome Not supplied. [checkorphan.org]

Prognosis There is usually no reduced life expectancy, but intrauterine death has been described. * European Reference Network A summary on this disease is available in Deutsch (2007) Italiano (2007) Español (2020) Français (2020) Nederlands (2020) Polski [orpha.net]

The prognosis is poor, and these children undergo several surgeries during childhood to correct the facial and limb dysmorphisms. [radiologykey.com]

· Hypoplastic fifth digit · Short forearms (Ulnar hypoplasia) Face · Cleft lip/palate · Cup-shaped ears · Lower lid ectropion · Malar hypoplasia · Micrognathia Gastrointestinal · Midgut malrotation · Gastric volvulus Genitourinary · Renal anomalies Prognosis [thefetus.net]

Prognosis Most patients with BWS have a normal life expectancy and generally do not develop serious medical problems in adulthood as a result of the condition. [emedicine.medscape.com]

Morphea (Localized Scleroderma; Circumscribed Scleroderma) 835 General: Localized chronic connective tissue disease of unknown etiology; etiology remains unknown, although there is a possible association with Borrelia burgdorferi infection. [dentisty.org]

As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. [typeset.io]

Etiology The disease arises from biallelic gene mutations for the enzyme dihydroorotate dehydrogenase (DHODH, 16q22.2), involved in pyrimidine biosynthesis. [orpha.net]

Facial dysostoses: Etiology, pathogenesis and management." American Journal of Medical Genetics 163(4): 283-294. Created by:Daniela Iacoboni, MS, CGC Edited by:Seema Jamal, MSc, LCGC [my46.org]

Prevalence: Very rare Etiology: 5 sets of sibs are suggestive of autosomal recessive inheritance,[v] and only 1 occurrence of autosomal dominant postaxial acrofacial dysostosis syndrome is known. [thefetus.net]

Mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome POADS Postaxial acrodysostosis Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Antenatal ICD-10: Q75.4 OMIM: 263750 UMLS: C0265257 MeSH: - GARD: 8410 MedDRA: - Summary Epidemiology [orpha.net]

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 Frequency Incidence is estimated to occur in 1 in 10,500 live births in the general population. [6] As individuals with milder phenotypes often go undiagnosed, the incidence may be higher. [emedicine.medscape.com]

Pathophysiology Unknown. Diagnosis Clinical aspect similar to Treacher Collins Syndrome, but with postaxial upper and lower limb defects. [accessanesthesiology.mhmedical.com]

Pathophysiology 7.1. During fetal development this gene alteration causes increased production of insulin-like growth factor 2. 7.1.1. This over production contributes to the overgrowth features. 7.1.2. [mindmeister.com]

Presentation of BWS occurs on a spectrum ranging from isolated asymmetry to classic features of BWS. [1] Pathophysiology Beckwith-Wiedemann Syndrome (BWS) is a pediatric cancer predisposition disorder caused by changes in the imprinted gene loci on chromosome [emedicine.medscape.com]

[…] cytomegaly Renal abnormalities Neonatal hypoglycemia Terminology Beckwith syndrome Wiedemann-Beckwith syndrome Exomphalos, macroglossia, gigantism (EMG) syndrome Epidemiology Incidence of 1:13,700 births Occurs in a variety of ethnic populations M=F Pathophysiology [pathologyoutlines.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Only… Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo… Based on previous in vitro studies that have illustrated prevention of ethanol‐induced cell death by antioxidants, using an [semanticscholar.org]

Prevention - Genee-Wiedemann syndrome Not supplied. Diagnosis - Genee-Wiedemann syndrome The diagnosis of Beckwith-Wiedemann syndrome relies primarily on clinical findings. [checkorphan.org]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Seite 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.de]