Malformations
Types
Agenesis
atresias
dysplasias
malformative fistulas
Duplications
persistence of embryologic structures
cystic malformations (malformative cysts)
- pulmonary cystic malformations
- renal cystic malformations
Localization
cerebral malformations
thymic malformations
cardiovascular malformations
- cardiac malformations
-
vascular malformations
- combined vascular malformations
visceral malfromations
- bronchopulmonary malformations
- bronchial malformations
- pulmonary malformations
-
digestive malformations
- digestive vascular malformations
- anorectal malformations
- oesophageal malformations
- biliary malformations
-
hepatic malformations
- hepatic vascular malformations
malformations of the male reproductive tract
limb malformations
Etiology
chromosomal diseases
teratogenic physical agents
teratogenic chemical agents
monogenic diseases
- transcription factor mutations
- DNA repair disorders
- inherited metabolic diseases
- carnitine palmitoyl transferase deficiency
- MADD (glutaric acidemia type 2)
- sterol metabolism diseases
- Smith-Lemli-Opitz syndrome
- mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP) (MIM.300205) in CDPX2 (X-linked chondrodysplasia punctata type 2)
maternal diseases
- maternal diabetes (diabetes-induced malformations)
See also:
developmental anomalies
malformative syndromes
deformations
disruptions
References
Hales BF. DNA repair disorders causing malformations. Curr Opin Genet Dev. 2005 Jun;15(3):234-40. PMID: 15917197