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Some minor anomalies may be clues to more significant internal abnormalities. [citation needed] Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
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.
Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. . The normal arrangement of internal organs is known as situs solit
Congenital heart disease refers to heart problems that you’re born with, like holes in the heart, malformed valves, and others. Some examples of congenital heart disease include : Pulmonary ...
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. [ 1 ] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with ...
Chronic kidney disease: CLOVES syndrome Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome CML Chronic myelogenous leukemia: CMs Chiari malformations: CMT disease Charcot–Marie–Tooth disease: CMT1A Charcot–Marie–Tooth disease type 1A CMT1B Charcot–Marie–Tooth disease ...
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more extraordinarily rare conditions in which a person cannot feel (and has never felt) physical pain. [1] The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause.