human 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
- urinary malformations
- renal malformations
- ureteral malformations
- vesical malformations
malformations of the male reproductive tract
limb malformations
- hand malformations
- foot malformations
To class
genital malformations
intestinal malformations
urinary malformations
vascular malformations
acrorenal malformation association
anal malformations
angiosarcoma in hemangioma/vascular malformation
anorectal malformations
anterior segment malformations
aortic malformations
aqueduct of Sylvius malformations
architectural malformation of the muscularis propria
Arnold-Chiari malformation
arteriovenous malformations
bile duct malformations
biliary malformations
bronchial malformations
bronchogenic cyst-bronchopulmonary sequestration- congenital cystic - adenomatoid malformation association
bronchopulmonary foregut malformation
bronchopulmonary foregut malformation complex
bronchopulmonary foregut malformations
capillary malformations
cardiac malformation-associated pulmonary hypertension
cardiac malformations
cardiovascular malformations
cartilaginous variant of congenital pulmonary airways malformation
Examples
Case #10207 - Association Tetralogy of Fallot, corpus callosum agenesis, cleft palate, vertebral malformations
Case #12687 - Ectrodactyly and great vessel malformations
Case #12772 - Four limbs ectrodactyly and cardiac malformations
Case #13535 - Holoprosencephaly with associated malformations
Case #14948 - Asplenia and multiple malformations
Case #9003 - Ductal plate malformation
cerebellar malformations
cerebral arteriovenous malformation
cerebral capillary malformation
cerebral cavernous malformation
cerebral malformations
cerebrospinal malformations
Chiari Type II malformation (CM II)
choledochal malformations
cloacal malformations
colonic malformations
communicating bronchopulmonary foregut malformation
complex vascular malformation
congenital cystic adenomatoid malformation type IV
congenital pulmonary airway malformation and renal malformations
congenital pulmonary airway malformations
conotruncal malformations
cranial malformations
craniofacial malformations
cutaneous arteriovenous malformation
cutaneous capillary malformation
cystic malformations
Dandy-Walker malformation
dental malformations
diabetes-induced malformations
diaphragmatic malformations
digestive malformations
digestive vascular malformation
digital malformations
ductal plate malformation
duodenal malformations
ear malformations
ectrodactyly and cardiac malformations
epididymal malformations
esophageal malformations
familial capillary malformation-arteriovenous malformation
familial glomuvenous malformation
female genital malformations
fetal massive vascular malformation
finger malformations
foot malformations
glomuvenous malformation
glomuvenous malformations
great vessel malformations
hand malformations
hepatic arteriovenous malformation
hepatic cystic malformations
hepatic malformations
hepatic vascular malformation with capillary proliferation
hepatic vascular malformations
hereditary intraosseous vascular malformation
intestinal arteriovenous malformation
intramuscular venous malformation
iris malformations
laryngeal malformations
leptomeningeal arteriovenous malformation
limb malformations
lower limbs malformations
malformation cluster analysis
malformation clustering groups
Malformation databases
malformation databases
Malformations
malformations of the male excretory system
malformations of the male genital system
malformations of the male reproductive tract
malformations of the rete testis
malformations of the seminal vesicles
malformations of the vas deferens
Malformations.org
MDB Malformation DataBase
metabolic malformation syndromes
metacarpal malformations
multiple cutaneous and mucosal venous malformations
multiple digital glomuvenous malformations, epidermal naevus, temporal
alopecia, heterochromia and abdominal lipoblastoma
NF1-associated malformations
non-syndromal urinary malformations
ocular malformations
penile malformations
pulmonary arteriovenous malformation
pulmonary artery malformations
pulmonary cystic malformations
pulmonary giant cystic chondroid malformation
pulmonary malformations
pulmonary vascular malformations
radial malformations
renal malformations
skeletal malformations
Smith’s Recognizable Patterns of Human Malformation
SNP genotyping in malformation study
spinal malformations
splenic malformations
split-hand/foot malformation with long bone deficiencies
split-hand/foot malformation with long bone deficiency type 1
sternal malformations
testicular malformations
testicular vascular malformations
thoracic wall malformations
thumb malformations
thymic malformations
tracheal malformations
upper limb malformations
ureteral malformations
urorectal septum malformation sequence
urothelial mucosal malformation
uterine malformations
vaginal malformations
venous malformations
vertebral malformations
vesical malformations
visceral 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
Genetics and human malformations. Mues G, Kapadia H, Wang Y, D’Souza RN. J Craniofac Surg. 2009 Sep;20 Suppl 2:1652-4. PMID: #19816326# [Free]
Prescott KR, Wilkie AO. Genetic aspects of birth defects: new understandings of old problems. Arch Dis Child Fetal Neonatal Ed. 2007 Jul;92(4):F308-14. PMID: #17585097#
Hales BF. DNA repair disorders causing malformations. Curr Opin Genet Dev. 2005 Jun;15(3):234-40. PMID: #15917197#