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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 ...
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.
CDK13-related disorder; Cerebro-costo-mandibular syndrome; CHAMP1-associated intellectual disability syndrome; Chromosome 5q deletion syndrome; Chudley–Mccullough syndrome; Cleft palate short stature vertebral anomalies syndrome; CLOVES syndrome; COACH syndrome; Cochleosaccular degeneration with progressive cataracts; Coffin–Lowry syndrome
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
This list is incomplete; you can help by adding missing items. ( May 2016 ) Fetal abnormalities are conditions that affect a fetus or embryo , are able to be diagnosed prenatally, and may be fatal or cause disease after birth.
Familial Alzheimer-like prion disease; Febrile infection-related epilepsy syndrome; Felty's syndrome; Fetal hydantoin syndrome; Fetal trimethadione syndrome; FG syndrome; Fitz-Hugh–Curtis syndrome; Fitzsimmons–Guilbert syndrome; Fleischer's syndrome; Floating–Harbor syndrome; Fountain syndrome; Franceschetti–Klein syndrome; Frank–Ter ...
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. [3] Functional disorders include metabolic and degenerative disorders. [3] Some birth defects include both structural and functional disorders. [3]