Possible Causes for multiple congenital anomalies Patau Syndrome Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. [ncbi.nlm.nih.gov] congenital anomalies. [genome.jp] Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym? [whonamedit.com] Winchester Syndrome This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and [books.google.de] Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple [books.google.de] Fraser Syndrome This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and [books.google.de] Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of [ncbi.nlm.nih.gov] She had multiple congenital anomalies which included a cardiac defect and airway abnormalities. [ncbi.nlm.nih.gov] Pierre Robin Syndrome Keywords Patau syndrome trisomy 13 multiple congenital anomalies Pierre Robin syndrome metabolic abnormalities fluorescence in situ hybridization DNA-microarray This is a [doi.org] […] heart defect and multiple congenital anomalies. [molecularcytogenetics.biomedcentral.com] Keywords Pierre robin syndrome; Mobius syndrome; Palatoglossal fusion; Fiberoptic intubation Introduction Pierre Robin Syndrome (PRS) is a congenital syndrome with multiple [omicsonline.org] Mucopolysaccharidosis Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…] [ncbi.nlm.nih.gov] Turner Syndrome Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta. [magicfoundation.org] […] arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples. [magicfoundation.org] Characteristics Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high [magicfoundation.org] Craniosynostosis Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK [ncbi.nlm.nih.gov] Maternal pesticide exposure from multiple sources and selected congenital anomalies. [ncbi.nlm.nih.gov] Most likely, as with many other congenital (present at birth) anomalies, multiple factors can contribute to this condition. [muhealth.org] Crouzon Syndrome 11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H01754 [genome.jp] More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being. [1] Most craniofacial anomalies [jdrntruhs.org] Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Other congenital malformations H01754 Crouzon syndrome Human diseases in ICD- [genome.jp] Trisomy 18 Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. [ncbi.nlm.nih.gov] Bioethical considerations remain important in the care of babies with multiple congenital anomalies. [ncbi.nlm.nih.gov] Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. [ncbi.nlm.nih.gov] Russell-Silver Syndrome congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased [commons.wikimedia.org] […] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without [genome.jp] […] file multimediale Wikipedia Istanza di malattia, difetto dello sviluppo durante l'embriogenesi Sottoclasse di chromosomal disease, nanismo primordiale, inherited tumor, multiple [commons.wikimedia.org] Cleidocranial Dysplasia If RUNX2 testing is not diagnostic and if strong suspicion persists in an individual with features of CCD spectrum disorder who also has multiple congenital anomalies and/ [ncbi.nlm.nih.gov] Trisomy 9 Trisomy 9 mosaicism with multiple congenital anomalies. Journal of Medical Genetics, 10 (2), 180-184. [uthscsa.influuent.utsystem.edu] We report on a newborn infant with multiple congenital anomalies and apparent nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died shortly after [ncbi.nlm.nih.gov] A term female infant with intrauterine growth retardation and multiple congenital anomalies had trisomy 9 mosaicism in blood and skin fibroblast cultures. [ncbi.nlm.nih.gov] Williams-Beuren Syndrome congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, genetic hypertension, partial deletion of the long arm of chromosome [commons.wikimedia.org] […] malattia, difetto dello sviluppo durante l'embriogenesi Sottoclasse di chromosomal deletion syndrome, supravalvular aortic stenosis, syndromic developmental defect of the eye, multiple [commons.wikimedia.org] rare disease, designated intractable/rare diseases Subclass of chromosomal deletion syndrome, supravalvular aortic stenosis, syndromic developmental defect of the eye, multiple [commons.wikimedia.org] Mucopolysaccharidosis Type 1 anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial [se-atlas.de] […] acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple congenital [se-atlas.de] Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Multiple [se-atlas.de] Noonan Syndrome Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK [ncbi.nlm.nih.gov] congenital anomalies and intellectual disability. [invitae.com] […] clinical features of Noonan syndrome overlap with Baraitser-Winter Cerebrofrontofacial ( BWCFF ) syndrome, a rare autosomal dominant developmental disorder characterized by multiple [invitae.com] Mowat-Wilson Syndrome Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA [ncbi.nlm.nih.gov] We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and gingival hypertrophy different from the literature. [ncbi.nlm.nih.gov] Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism. [ncbi.nlm.nih.gov] Mucopolysaccharidosis Type 2 Hunter disease is an X-linked recessive mucopolysaccharide storage disorder caused by iduronate-2-sulfatase deficiency and is rare in females. We describe here findings in a girl with Hunter disease of the severe type. She had a normal karyotype but a marked deficiency of iduronate-2-sulfatase activity in[…] [ncbi.nlm.nih.gov] Mohr Syndrome congenital anomaly syndrome ( Smith-Lemli-Opitz syndrome type 2) orofaciodigital syndromes Varadi-Papp syndrome (OFDS6) syndromal preaxial poydactyly Mohr syndrome Majewski [humpath.com] […] syndrome Biechoud syndrome Oliver syndrome cleft palate and postaxial polysyndactyly syndromes (polydactyly-cleft palate association) Pallister-Hall syndrome Rutledge lethal multiple [humpath.com] XXXXY Syndrome A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia [ncbi.nlm.nih.gov] We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. [ncbi.nlm.nih.gov] And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. [unboundmedicine.com] Brachycephaly OBJECTIVE: Several techniques to remodel the posterior calvarium in order to increase intracranial volume (ICV) and to improve cosmetic appearance are reported. This study presents the results of meander technique in patients with brachycephaly and posterior plagiocephaly. METHODS: During December 2011 and July[…] [ncbi.nlm.nih.gov] Trisomy 21 Down syndrome (DS)-associated transient abnormal myelopoiesis (TAM) or acute megakaryoblastic leukemia (AMKL) in monozygotic twins is exceedingly rare and has not been well characterized. We describe a unique case of monozygotic twins with simultaneous TAM from a triplet pregnancy at 34 weeks' gestation.[…] [ncbi.nlm.nih.gov] Trisomy 20 We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. [ncbi.nlm.nih.gov] A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. [ncbi.nlm.nih.gov] We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor [ncbi.nlm.nih.gov] Partial Monosomy 18q United Arab Emirates El Kalla et al. (1992) reported the case of an infant with multiple congenital anomalies, and tetralogy of Fallot. [cags.org.ae] Isidor B, Winer N, Joubert M et al. (2008) Inherited 18q23 duplication in a fetus with multiple congenital anomalies. [els.net] The third patient was born with multiple congenital anomalies, affecting the head, face, heart, legs and muscles. [tmj.ro] Mulibrey Nanism Syndrome ZWS causes multiple congenital anomalies dominated by a typical craniofacial dysmorphism, including a high forehead, a large anterior fontanelle, hypoplastic supraorbital [emedicine.medscape.com] congenital anomalies. [clincancerres.aacrjournals.org] […] dysmorphology (broad depressed nasal bridge, everted V-shape upper lip, low-set ears, deep-set eyes, and prominent forehead), renal dysplasia and nephroblastomatosis, and multiple [clincancerres.aacrjournals.org] Wolf-Hirschhorn Syndrome The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. [ncbi.nlm.nih.gov] anomaly syndromes. [ncbi.nlm.nih.gov] We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral [ncbi.nlm.nih.gov] CHARGE Syndrome Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular [ncbi.nlm.nih.gov] BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. [ncbi.nlm.nih.gov] CHARGE is a mnemonic for a syndrome with multiple congenital anomalies that occurs with normal chromosomes. [ncbi.nlm.nih.gov] Cockayne Syndrome A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. [icd10data.com] Prader-Willi Syndrome seizures, severe intellectual disabilities, classic autism, and multiple congenital anomalies) indicating other genetic causes may be contributing to the clinical presentation [onlinelibrary.wiley.com] Birth defects are also called congenital anomalies. [en.wikipedia.org] […] type of disorder are Huntington's disease,[18] neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple [en.wikipedia.org] Kabuki Syndrome Kabuki syndrome (KS) comprises multiple congenital anomalies and distinctive facial appearance. [ncbi.nlm.nih.gov] BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, [ncbi.nlm.nih.gov] Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, [ncbi.nlm.nih.gov] Smith Lemli Opitz Syndrome We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS [ncbi.nlm.nih.gov] We describe an Austrian family whose first child died neonatally with multiple congenital anomalies. [ncbi.nlm.nih.gov] Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome Smith–Lemli–Opitz syndrome 7-dehydrocholesterol reductase deficiency Smith Lemli Opitz syndrome [wikidata.org]
