Create issue ticket

5,725 Possible Causes for Abnormalities Multiple

  • Osteoporosis

    Tetrasomy 20p is a very rare chromosome abnormality, with only two single cases previously reported in the literature, both fetuses with multiple congenital anomalies, osteopenia[ncbi.nlm.nih.gov] Multiple fractures of the spine can cause loss of height and significant spinal deformities and patients may develop marked abnormal curvature of the spine (kyphoscoliosis[yourhormones.info] Abnormal stress on the spinal muscles and ligaments may cause chronic, dull, aching pain, particularly in the lower back.[merckmanuals.com]

  • Patau Syndrome

    Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym?[whonamedit.com] Morbidity and mortality occur because of multiple congenital anomalies such as heart defects, neural tube defects, and CNS abnormalities.[clinicaladvisor.com] congenital anomalies involving virtually every organ system [2] .[ijri.org]

  • Trisomy 9

    We present the case of a child born with mosaic trisomy 9 and multiple congenital anomalies. Her trachea displays segmental abnormalities that suggest tissue mosaicism.[ncbi.nlm.nih.gov] @article{5a755352e8884dde814a90668996d408, title "Trisomy 9 mosaicism with multiple congenital anomalies", abstract "A nine year old male with developmental abnormalities[uthscsa.influuent.utsystem.edu] Of these, 14 resulted in abnormal offspring; 8 had multiple congenital anomalies , 7 had facial dysmorphism , 4 had congenital heart disease , 3 had urogenital abnormalities[mosaicism.bcchr.ca]

  • Trisomy 20

    Nonetheless, some abnormal outcomes have been reported, including unexplained fetal demise, intrauterine growth restriction, and multiple congenital anomalies.[ncbi.nlm.nih.gov] Abnormal outcomes found include unexplained fetal demise , intrauterine growth restriction ( IUGR ) and multiple congenital anomalies .[mosaicism.bcchr.ca] , Multiple / genetics*, pathology Adult Chromosomes, Human, Pair 20 / genetics* Female Genetic Counseling Humans Karyotyping Mosaicism* Pregnancy Trisomy / genetics*, pathology[biomedsearch.com]

  • XXXXY Syndrome

    We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate.[unboundmedicine.com] 49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal[ncbi.nlm.nih.gov] , Multiple Adolescent Diabetes Mellitus Humans Klinefelter Syndrome Male Sex Chromosome Aberrations Pub Type(s) Case Reports Journal Article Language eng PubMed ID 16357485[unboundmedicine.com]

  • Trisomy 18

    There are many chromosome abnormalities that can mimic the dysmorphic features and multiple congenital anomalies present in trisomy 18.[clinicaladvisor.com] Here we present a female newborn with intrauterine growth retardation and multiple congenital abnormalities including: craniofacial anomaly, tracheoesophageal fistula, esophageal[ncbi.nlm.nih.gov] Most of the fetuses die in utero; those who take birth have a multiple system anomalies such as cardiac, renal, Gastro enteral, genitourinary and skeletal abnormalities.[symptoma.com]

  • Fraser Syndrome

    She had multiple congenital anomalies which included a cardiac defect and airway abnormalities.[ncbi.nlm.nih.gov] We report a case of 13-year-old male, who had multiple congenital anomalies and clinico radiological features consistent with Fraser syndrome without cryptophthalmos.[jclpca.org] We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including[ncbi.nlm.nih.gov]

  • Cri Du Chat Syndrome

    Background In 1963, Lejeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants[emedicine.medscape.com] Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity[ncbi.nlm.nih.gov] Cri du chat syndrome is an inherited disease affecting multiple organ systems.[ncbi.nlm.nih.gov]

  • Williams Syndrome

    Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    , Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Obesity Overnutrition Nutrition Disorders Pharmaceutical Solutions[clinicaltrials.gov] , Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Obesity Overnutrition Nutrition Disorders Oxytocin Oxytocics Reproductive Control Agents[clinicaltrials.gov] Prader-Willi syndrome (PWS) is a complex disorder that affects multiple systems and may cause craniofacial and dentofacial abnormalities.[ncbi.nlm.nih.gov]

Further symptoms