Multiple Congenital Anomalies: Causes & Reasons

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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]

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]

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]

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]

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]

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]

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]

Article / Publication Details First-Page Preview Abstract A 4 10/12 year old girl with mental defect and multiple minor congenital anomalies was found to have a deletion of [karger.com]

XXXXY Syndrome

We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. [ncbi.nlm.nih.gov]

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]

And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. [unboundmedicine.com]

Cri Du Chat Syndrome

A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri [ncbi.nlm.nih.gov]

congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. [orpha.net]

Overview Background In 1963, Lejeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing [emedicine.com]

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]

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]

Anencephaly

One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including [ncbi.nlm.nih.gov]

There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small [ncbi.nlm.nih.gov]

congenital malformations, not elsewhere classified 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To Multiple congenital anomalies NOS Multiple congenital [icd10data.com]

Klein-Waardenburg Syndrome

ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO MENTALE SINDROME DA DELEZIONE 8Q24.3 RNG100 ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO MENTALE SINDROME DA DELEZIONE 9Q SUBTELOMERICA [malattierare.regione.veneto.it]

congenital malformations, Waardenburg syndrome, type 3, Klein-Waardenburg syndrome, WS3, Waardenburg syndrome with upper limb anomalies, Waardenburg syndrome with limb anomalies [monarchinitiative.org]

— Klein's Syndrome — Kleins Syndrome — Syndrome, Klein's — Waardenburg Syndrome with Upper Limb Anomalies [mesh.kib.ki.se]

Congenital Rubella Syndrome

Congenital rubella is a viral infection acquired from the mother during pregnancy. Signs are multiple congenital anomalies that can result in fetal death. [merckmanuals.com]

In the fetus, there may be no effects, death in utero, or multiple anomalies referred to as congenital rubella syndrome (CRS). [merckmanuals.com]

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]

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]

CONGENITE MULTIPLE GRAVI ED INVALIDANTI CON RITARDO MENTALE (RNG100) SINDROME KBG (RNG101) COLOBOMA CONGENITO CORIORETINICO (RNG101) COLOBOMA CONGENITO DELL'IRIDE (RNG101 [malattierare.toscana.it]

[…] syndrome Biechoud syndrome Oliver syndrome cleft palate and postaxial polysyndactyly syndromes (polydactyly-cleft palate association) Pallister-Hall syndrome Rutledge lethal multiple [humpath.com]

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]

rare disease, designated intractable/rare diseases Subclass of chromosomal deletion syndrome, supravalvular aortic stenosis, syndromic developmental defect of the eye, multiple [commons.wikimedia.org]

Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). [doi.org]

Craniosynostosis

Most likely, as with many other congenital (present at birth) anomalies, multiple factors can contribute to this condition. [muhealth.org]

Maternal pesticide exposure from multiple sources and selected congenital anomalies. [ncbi.nlm.nih.gov]

Chromosomal Anomaly

Mokhtar ABSTRACT: Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies [emro.who.int]

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet1984;19:195–207. [jmg.bmj.com]

T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities. [ijponline.biomedcentral.com]

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]

Fetal Warfarin Syndrome

G. (1977) Multiple congenital anomalies associated with oral anticoagulants. American Journal of Obstetrics and Gynecology, 127: 191–198. Spranger, J. W., Opitz, J. [cambridge.org]

Introduction Binder syndrome is a rare congenital anomaly with multiple etiologies and multiple associated disorders which are poorly understood because of rarity. [casereports.in]

The congenital abnormalities include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. [icd10data.com]

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]

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]

GRAVI ED INVALIDANTI CON BASSA STATURA COME SEGNO PRINCIPALE NANISMO PRIMORDIALE OSTEODISPLASTICO DI MAJEWSKI, TIPO II RNG100 ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO [malattierare.regione.veneto.it]

Cockayne Syndrome

A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. [icd10data.com]

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]

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]

Russell-Silver Syndrome

[…] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without [genome.jp]

Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Other congenital malformations H00711 Russell-Silver syndrome Human diseases [genome.jp]

Prader-Willi Syndrome

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]

[…] available to determine biparental inheritance or with clinical features that are not typically seen in PWS (e.g., seizures, severe intellectual disabilities, classic autism, and multiple [onlinelibrary.wiley.com]

Fetal Alcohol Syndrome

A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus [ncbi.nlm.nih.gov]

Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. [ncbi.nlm.nih.gov]

Marshall Syndrome

Syndrome of accelerated skeletal maturation in infancy, peculiar facies, and multiple congenital anomalies. J Pediatr. 1974 Apr;84(4):553–556. [ncbi.nlm.nih.gov]

[…] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2C Overgrowth syndromes H01834 Marshall-Smith syndrome Gene [genome.jp]

[…] malformation syndromes affecting multiple systems, NEC Laurence-Moon-Biedl syndrome ICD-9-CM Volume 2 Index entries containing back-references to 759.89 : Abrachiocephalia [icd9data.com]