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).[1]
Causes
- exogenous causes
- 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
- List of congenital disorders
- List of ICD-9 codes 740-759: Congenital anomalies
- March of Dimes
References
- ^ Forci, K.; Alami, M. H.; Bouaiti, E.; Slaoui, M.; Alaoui, A. Mdaghri; Izgua, A. Thimou (June 2020). "Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies". BMC Pediatrics. 3 (20): 272. doi:10.1186/s12887-020-02179-6. PMC 7268369. PMID 32493258.
External links
- CDC's National Center on Birth Defects and Developmental Disabilities
- Congenital Anomalies, official journal of the
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