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2,554 Possible Causes for Congenital Abnormality, Microcephaly

  • Growth Hormone Deficiency

    […] characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly[ncbi.nlm.nih.gov] BACKGROUND: Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism[ncbi.nlm.nih.gov] […] to intracranial lesions (anosmia or visual deficits) are findings that require exclusion of GHD as the underlying cause, while neonatal signs include prolonged jaundice, microcephaly[symptoma.com]

  • Cytomegalovirus Infection

    Abstract Congenital cytomegalovirus (CMV) infection is the leading cause of severe congenital abnormalities.[ncbi.nlm.nih.gov] Typical ultrasound signs that should arouse suspicion of intrauterine CMV infection can be distinguished into CNS signs such as ventriculomegaly or microcephaly and extracerebral[ncbi.nlm.nih.gov] Common symptomatic characteristics of the virus include microcephaly, jaundice, liver-spleen infections, pneumonia, cardiac anomalies, chorioretinitis, vision loss, sensory-neural[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    […] syndrome 759.89 Cerebrohepatorenal syndrome 759.89 CGF (congenital generalized fibromatosis) 759.89 CHARGE association (syndrome) 759.89 Cockayne's disease or syndrome (microcephaly[icd9data.com] A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated for cryptic chromosomal imbalances[ncbi.nlm.nih.gov] OBJECTIVES: CHARGE syndrome is a complex cluster of congenital abnormalities, these children may have absent or hypoplastic auditory nerves.[ncbi.nlm.nih.gov]

  • Meckel-Gruber Syndrome

    […] case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly[ncbi.nlm.nih.gov] […] heart defect, genital anomalies, abnormal facies, and polycystic degeneration of the kidneys, liver, and pancreas.[whonamedit.com] Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the[ncbi.nlm.nih.gov]

  • Velocardiofacial Syndrome

    These may include the following: • Tetralogy of Fallot, a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the[rarediseases.org] Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly[medical-dictionary.thefreedictionary.com] abnormalities.[clinicaladvisor.com]

  • Smith Lemli Opitz Syndrome

    The syndrome is characterized by growth retardation, microcephaly (small head), mental retardation, and malformations that include distinctive facial features, cleft palate[medicinenet.com] Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities.[ncbi.nlm.nih.gov] She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly[ncbi.nlm.nih.gov] […] cardiac abnormalities: reported in up to 33% of affected patients 2 patent ductus arteriosus atrial septal defects ventricular septal defect hirsutism Most cases are thought[radiopaedia.org] RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation.[ncbi.nlm.nih.gov]

  • Congenital Abnormality

    Microcephaly icon.[shutterstock.com] All the patients admitted with congenital abnormality in fetomaternal unit during this study period were included in this study.[ncbi.nlm.nih.gov] In addition, previous findings that showed an association between high fever and facial anomalies (micrognathia and midfacial hypoplasia), microcephaly and defects of external[ncbi.nlm.nih.gov]

  • Aicardi's Syndrome

    Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in[ncbi.nlm.nih.gov] Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties[diseaseinfosearch.org] The ocular abnormalities of Aicardi's Syndrome are distinguishable from, but may be confused with, those of congenital toxoplasmosis and cytomegalic inclusion disease.[ncbi.nlm.nih.gov]

  • Fetal Alcohol Syndrome

    Fetal alcohol syndrome (FAS) , various congenital abnormalities in the newborn infant that are caused by the mother’s ingestion of alcohol about the time of conception or[britannica.com] Craniofacial anomalies, including microcephaly, are most common. Malformations appear to be related to heavy ethanol intake during the first trimester of pregnancy.[ncbi.nlm.nih.gov] Fetal alcohol syndrome (FAS), various congenital abnormalities in the newborn infant that are caused by the mother’s ingestion of alcohol about the time of conception or during[britannica.com]

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