| Metadata | |
|---|---|
| ID | DOID:0111255 |
| Name | McKusick-Kaufman syndrome |
| Definition | A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. https://www.ncbi.nlm.nih.gov/pubmed/10802661, https://www.ncbi.nlm.nih.gov/pubmed/21044901 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702407009 |
| Subsets |
DO_rare_slim |
| Synonyms |
HMCS [EXACT] hydrometrocolpos syndrome [EXACT] hydrometrocolpos, postaxial polydactyly, and congenital heart malformation [EXACT] hydrometrocolpos-postaxial polydactyly syndrome [EXACT] Kaufman McKusick syndrome [EXACT] MKKS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |