McKusick-Kaufman syndrome
Findings
No curated finding names McKusick-Kaufman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
Definition from the Mondo Disease Ontology (MONDO:0009367), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HydrometrocolposHPOHP:0030010
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Glanular hypospadiasHPOHP:0000807
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Frequent (30% to 79% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Occasional (5% to 29% of cases)
- Aganglionic megacolonHPOHP:0002251
- Occasional (5% to 29% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
Show the remaining 16
- Ectopic anusHPOHP:0004397
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Finger syndactylyHPOHP:0006101
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Hypoplastic left ventricleHPOHP:0004383
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MKKSHGNC:7108
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: McKusick-Kaufman syndrome
- Also called
- hydrometrocolpos-postaxial polydactyly syndromeKaufman-Mckusick syndrome