H00979 | |
H number | H00979 |
Name | Sacral defect with anterior meningocele; Caudal regression syndrome |
Description | Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well as anorectal and genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal mesoderm and are usually sporadic. |
Category | Congenital malformation |
Network | - |
Gene | VANGL1 [HSA:81839] [KO:K04510] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Spina bifida, a neural tube defect, is described in H00262. |
Other DBs | ICD-11: LD2F.1 ICD-10: Q76.0 MeSH: D004480 OMIM: 600145 |
Reference | PMID:33158301 AUTHORS Kylat RI, Bader M TITLE Caudal Regression Syndrome. JOURNAL Children (Basel) 7:E211 (2020) DOI:10.3390/children7110211 PMID:18470923 AUTHORS Rougemont AL, Bouron-Dal Soglio D, Desilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC TITLE Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. JOURNAL Am J Med Genet A 146A:1470-6 (2008) DOI:10.1002/ajmg.a.32081 |