Congenital anomalies deaths per million persons in 2012 Disability-adjusted life year for congenital anomalies per 100,000 inhabitants in 2004. Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990. The types with the greatest death are congenital heart defects (323,000), followed by neural tube defects (69,000). Many studies have found that the frequency of occurrence of certain congenital malformations depends on the sex of the child (table). For example, pyloric stenosis occurs more often in males while congenital hip dislocation is four to five times more likely to occur in females. Among children with one kidney, there are approximately twice as many males, whereas among children with three kidneys there are approximately 2.5 times more females. The same pattern is observed among infants with excessive number of ribs, vertebrae, teeth and other organs which in a process of evolution have undergone reduction—among them there are more females. Contrarily, among the infants with their scarcity, there are more males. Anencephaly is shown to occur approximately twice as frequently in females. The number of boys born with 6 fingers is two times higher than the number of girls. Now various techniques are available to detect congenital anomalies in fetus before birth. About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance. Physical congenital abnormalities are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. Seven to ten percent of all children will require extensive medical care to diagnose or treat a birth defect. : + The sex ratio of patients with congenital malformations Congenital anomaly Sex ratio, ♂♂:♀♀ Defects with female predominance Congenital hip dislocation 1 : 5.2; 1 : 5; 1 : 8; 1 : 3.7 Cleft palate 1 : 3 Anencephaly 1 : 1.9; 1 : 2 Craniocele 1 : 1.8 Aplasia of lung 1 : 1.51 Spinal herniation 1 : 1.4 Diverticulum of the esophagus 1 : 1.4 Stomach 1 : 1.4 Neutral defects Hypoplasia of the tibia and femur 1 : 1.2 Spina bifida 1 : 1.2 Atresia of small intestine 1 : 1 Microcephaly 1.2 : 1 Esophageal atresia 1.3 : 1; 1.5 : 1 Hydrocephalus 1.3 : 1 Defects with male predominance Diverticula of the colon 1.5 : 1 Atresia of the rectum 1.5 : 1; 2 : 1 Unilateral renal agenesis 2 : 1; 2.1 : 1 Schistocystis 2 : 1 Cleft lip and palate 2 : 1; 1.47 : 1 Bilateral renal agenesis 2.6 : 1 Congenital anomalies of the genitourinary system 2.7 : 1 Pyloric stenosis, congenital 5 : 1; 5.4 : 1 Meckel's diverticulum More common in boys Congenital megacolon More common in boys All defects 1.22 : 1; 1.29 : 1 * Data obtained on opposite-sex twins. ** — Data were obtained in the period 1983–1994. P. M. Rajewski and A. L. Sherman (1976) have analyzed the frequency of congenital anomalies in relation to the system of the organism. Prevalence of men was recorded for the anomalies of phylogenetically younger organs and systems. In respect of an etiology, sexual distinctions can be divided on appearing before and after differentiation of male's gonads during embryonic development, which begins from the eighteenth week. The testosterone level in male embryos thus raises considerably. The subsequent hormonal and physiological distinctions of male and female embryos can explain some sexual differences in frequency of congenital defects. It is difficult to explain the observed differences in the frequency of birth defects between the sexes by the details of the reproductive functions or the influence of environmental and social factors. United States The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: * Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year. * About 7,000 babies are born with a cleft palate, cleft lip or both. +Adjusted National Prevalence Estimates and Estimated Number of Cases in the United States, 2004–2006 Birth Defects Cases per Births Estimated Annual Number of Cases Estimated National Prevalence per 10,000 Live Births (Adjusted for maternal race/ethnicity) Central nervous system defects Anencephaly 1 in 4,859 859 2.06 Spina bifida without anencephaly 1 in 2,858 1460 3.50 Encephalocele 1 in 12,235 341 0.82 Eye defects Anophthalmia/ microphthalmia 1 in 5,349 780 1.87 Cardiovascular defects Common truncus 1 in 13,876 301 0.72 Transposition of great arteries 1 in 3,333 1252 3.00 Tetralogy of Fallot 1 in 2,518 1657 3.97 Atrioventricular septal defect 1 in 2,122 1966 4.71 Hypoplastic left heart syndrome 1 in 4,344 960 2.30 Orofacial defects Cleft palate without cleft lip 1 in 1,574 2651 6.35 Cleft lip with and without cleft palate 1 in 940 4437 10.63 Gastrointestinal defects Esophageal atresia/tracheoeophageal fistula 1 in 4,608 905 2.17 Rectal and large intestinalatresia/stenosis 1 in 2,138 1952 4.68 Musculoskeletal defects Clubfoot, lower limbs 1 in 250 ~ 1000 ... ... Reduction deformity, upper limbs 1 in 2,869 1454 3.49 Reduction deformity, lower limbs 1 in 5,949 701 1.68 Gastroschisis 1 in 2,229 1871 4.49 Omphalocele 1 in 5,386 775 1.86 Diaphragmatic hernia 1 in 3,836 1088 2.61 Chromosomal anomalies Trisomy 13 1 in 7,906 528 1.26 Trisomy 21 (Down syndrome) 1 in 691 6037 14.47 Trisomy 18 1 in 3,762 1109 2.66
duration of Pyruvate carboxylase deficiency
symptom of Pyruvate carboxylase deficiency
symptom of Glucose-6-phosphate dehydrogenase deficiency
symptom of Adenylosuccinate lyase deficiency
complications of Pyruvate carboxylase deficiency
symptom of Phenylketonuria
complications of Glucose-6-phosphate dehydrogenase deficiency
symptom of Methemoglobinemia