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List of congenital disorders. 1 language. ... Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
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.
Babinski–Nageotte syndrome; Baboon syndrome; Baggio–Yoshinari syndrome; Baller–Gerold syndrome; Bamforth–Lazarus syndrome; Bangstad syndrome; Bannayan–Riley–Ruvalcaba syndrome
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.
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
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
Candida albicans infection; Candida parapsilosis infection; Cytomegalovirus infection; diphtheria; human coronavirus infection; respiratory distress syndrome; measles; meconium aspiration syndrome
A diverse list of medical disorders have led to delivery during coma, including head injury, antepartum bleeding, severe hypotension and hypothermia. [28] Of these the commonest is eclampsia. [29] There are ten cases in the literature of unexplained stupor or coma, including cases with features of catatonia. [30]