A malformative syndrome (or malformation syndrome) is a recognizable pattern of
congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
Causes
* exogenous causes
** exogenous
toxic
Toxicity is the degree to which a chemical substance or a particular mixture of substances can damage an organism. Toxicity can refer to the effect on a whole organism, such as an animal, bacterium, or plant, as well as the effect on a subst ...
(
teratogenetic agents)
**
ionizing radiation
Ionizing (ionising) radiation, including Radioactive decay, nuclear radiation, consists of subatomic particles or electromagnetic waves that have enough energy per individual photon or particle to ionization, ionize atoms or molecules by detaching ...
s
**
fetal infections (
maternofetal infections)
* genetic causes (or intrinsic causes) (genetic malformative diseases)
**
chromosomal anomalies (chromosomal malformative diseases)
** numerical chromosomal anomalies (e.g.
trisomy 13,
trisomy 18,
trisomy 21
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes).
Description and causes
Most organisms that repro ...
)
** structural chromosomal anomalies
***
microdeletion
In genetics, a deletion (also called gene deletion, deficiency, or Deletion anomaly, deletion mutation) (sign: delta (letter), Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA rep ...
s (
microdeletion syndrome
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleoti ...
s)
***
chromosomal rearrangement
In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. Such changes may involve several different classes of events, like deletions, duplicati ...
s
*
gene mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis ...
s (monogenic malformative diseases)
**
Kabuki mask syndrome: MLL2
**
Joubert syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the Human brain, brain that controls balance and coordination.
Joubert syndrome is one of the many genetic syndromes associated with syndromic ...
,
Meckel syndrome Meckel may refer to:
People German anatomist/physician family Meckel
* Johann Friedrich Meckel, the Younger (1781–1833), German anatomist
* Johann Friedrich Meckel, the Elder (1724–1774) German anatomist, grandfather of the Younger
* Ph ...
and related syndromes: TMEM216
**
cleft lip
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nasal cavi ...
with and without
cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The ...
: MAFB and ABCA4
**
Schinzel–Giedion syndrome: SETBP1
**
Fanconi anemia and related disorders: RAD51C
**
Noonan syndrome: NRAS
** generalized lymph vessel dysplasia: CCBE1
**
brachydactyly-
anonychia: SOX9
**
genetic metabolic diseases
***
Smith–Lemli–Opitz syndrome
Smith–Lemli–Opitz syndrome is an inborn error of metabolism, inborn error of cholesterol synthesis. It is an autosome, autosomal recessive (genetics), recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrochole ...
See also
*
Congenital abnormality
*
List of congenital disorders
*
List of ICD-9 codes 740-759: Congenital anomalies
*
March of Dimes
March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by US President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to co ...
References
{{Reflist, 2
External links
CDC's National Center on Birth Defects and Developmental DisabilitiesCongenital Anomalies official journal of the
Congenital disorders
Animal developmental biology
Syndromes