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Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Conductive deafness-ptosis-skeletal anomalies syndrome; Congenital bilateral perisylvian syndrome; Congenital contractural arachnodactyly; Congenital generalized lipodystrophy; Congenital insensitivity to pain; Congenital myasthenic syndrome; Congenital nephrotic syndrome; Congenital rubella syndrome; Conn's syndrome; Conorenal syndrome ...
respiratory distress syndrome; measles; meconium aspiration syndrome; metapneumovirus (hMPV) infection; necrotizing enterocolitis; neonatal conjunctivitis; parainfluenza (PIV) infection; pertussis; poliomyelitis; prenatal Listeria; Group B streptoccus infection; Tay–Sachs disease; tetanus; Ureaplasma urealyticum infection; respiratory ...
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Around the world, the most common cause of congenital iodine deficiency syndrome (endemic cretinism) [1] is dietary iodine deficiency. Iodine is an essential trace element, necessary for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of neonatal and childhood brain damage worldwide. [11]
Fetal warfarin syndrome is a disorder of the embryo which occurs in a child whose mother took the medication warfarin (brand name: Coumadin) during pregnancy. Resulting abnormalities include low birth weight , slower growth , intellectual disability , deafness , small head size , and malformed bones , cartilage , and joints .
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little ...