- Malformative syndrome
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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).
Contents
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
- microdeletions (microdeletion syndromes)
- chromosomal rearrangements
- 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
- malformative combination (malformation combination)
- malformative sequence (malformation sequence)
- malformative association (malformation association)
- 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
- Comprehensive coverage of congenital disorders and birth defects at Answers.com
- Congenital Anomalies, official journal of the Japanese Teratology Society
- Stop CMV - The CMV Action Network
Pathology: Medical conditions and ICD code (Disease / Disorder / Illness, Syndrome / Sequence, Symptom / Sign, Injury, etc.) (A/B, 001–139) Infectious disease/Infection: Bacterial disease (G+, G-) · Virus disease · Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) · Mycosis · Zoonosis(C/D,
140–239 &
279–289)Cancer (C00–D48, 140–239)Myeloid hematologic (D50–D77, 280–289)(E, 240–278) (F, 290–319) (G, 320–359) (H, 360–389) (I, 390–459) (J, 460–519) (K, 520–579) Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic)(L, 680–709) (M, 710–739) (N, 580–629) Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease(O, 630–679) (P, 760–779) (Q, 740–759) (R, 780–799) (S/T, 800–999) Categories:- Congenital disorders
- Developmental biology
- exogenous causes
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