McKusick-Kaufman syndrome

Term ID

DOID:0111255

Synonyms

• HMCS
• hydrometrocolpos syndrome
• hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
• hydrometrocolpos-postaxial polydactyly syndrome
• Kaufman McKusick syndrome
• MKKS

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. (2)

References

• GARD:3427
• MEDDRA:10052312
• MESH:C538159
• OMIM:236700
• ORDO:2473
• SNOMEDCT_US_2023_03_01:702407009
• UMLS_CUI:C0948368

Ontology

Human Disease   ( DOID:0111255 )