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 (teratogenetic agents)
- ionizing radiations
- 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)
- structural chromosomal anomalies
- gene mutations (monogenic malformative diseases)
- Kabuki mask syndrome: MLL2
- Joubert syndrome, Meckel syndrome and related syndromes: TMEM216
- cleft lip with and without cleft palate: 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
See also
- Congenital abnormality
- Malformative syndrome
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of congenital disorders
- List of ICD-9 codes 740-759: Congenital anomalies
- March of Dimes
References
External links
- CDC’s National Center on Birth Defects and Developmental Disabilities
- Congenital Anomalies, official journal of the
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