Malformative syndrome
This article needs more medical references for verification or relies too heavily on primary sources. (June 2019) |
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 ()
- ionizing radiations
- ()
- 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
- microdeletions (microdeletion syndromes)
- chromosomal rearrangements
- gene mutations (monogenic malformative diseases)
- : 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
See also[]
- Congenital abnormality
- Malformative syndrome
- 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
Categories:
- Congenital disorders
- Animal developmental biology
- Syndromes