| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.2%) |
8985498 |
Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia. Yapar EG, Ekici E, Aydogdu T, Senses E, Gokmen O. Am J Med Genet. 1996;66(3):343-6. |
| Short ribs | ||
| Adult Differential Diagnosis Ellis-Van Creveld Syndrome Female Genital Diseases Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Ovarian Cysts Polydactyly Syndrome Uterus Vagina Ventricular Septal Defects | ||
| 2 (31.0%) |
29866251 |
A Newborn with Rare McKusick Syndrome. Halim A, Afzal T, Fatima S, Riaz S. J Coll Physicians Surg Pak. 2018;28(6):S140-S142. |
| Polydactyly | ||
| Congenital Heart Defects Females Homo sapiens Hydrocolpos Infant, Newborn Polydactyly Uterine Diseases | ||
| 2 (31.0%) |
26900326 (4734152) |
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV. Mol Vis. 2016;22:73-81. |
| Retinal degeneration Polydactyly | ||
| BBS12 MKKS | ||
| c|SUB|A|1184|G p|SUB|H|395|R | ||
| Bardet-Biedl Syndrome Congenital Heart Defects DNA Mutational Analysis Females Group II Chaperonins HEK293 Cells High-Throughput Nucleotide Sequencing Homo sapiens Hydrocolpos Male Missense Mutation Plasmids Polydactyly Retinitis Pigmentosa Sibling Tomography, Optical Coherence Uterine Diseases Western Blotting | ||
| 2 (31.0%) |
26023427 (4420340) |
Mckusick-kaufman syndrome presenting as acute intestinal obstruction. B Hatti R, V Badakali A, N Vanaki R, S Samalad M. J Neonatal Surg. 2013;2(1):7. |
| Intestinal obstruction Polydactyly | ||
| 2 (31.0%) |
25635170 (4295912) |
A case of hydrometrocolpos and polydactyly. Sharma D, Murki S, Pratap OT, Irfan G, Kolar G. Clin Med Insights Pediatr. 2015;9:7-11. |
| Hydronephrosis Polydactyly | ||
| 2 (31.0%) |
25017277 |
Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome. Tsai HF, Wu MH, Cheng YC, Chang CH, Chang FM. Taiwan J Obstet Gynecol. 2014;53(2):241-4. |
| Edema Polydactyly | ||
| Adult Child, Preschool Congenital Heart Defects Females Homo sapiens Hydrocolpos Infant Infant, Newborn Polydactyly Pregnancy Ultrasonography, Prenatal Uterine Diseases | ||
| 2 (31.0%) |
24656697 |
McKusick Kaufman syndrome, complications arising at puberty. Lueth ET, Wood KE. J Pediatr Adolesc Gynecol. 2014;27(6):e125-6. |
| Polydactyly | ||
| Cervix Uteri Congenital Heart Defects Females Homo sapiens Hydrocolpos Polydactyly Postoperative Complications Puberty Pyometra Uterine Diseases X-Ray Computed Tomography | ||
| 2 (31.0%) |
24082487 (3777332) |
The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report. Yewalkar SP, Yadav VK, Khadse G. Indian J Radiol Imaging. 2013;23(2):183-5. |
| Polydactyly | ||
| 2 (31.0%) |
23860075 |
Early abdomino-perineal pull-through vaginoplasty. Ciftci I, Tastekin A, Annagur A, Koplay M. Afr J Paediatr Surg. 2013;10(2):188-91. |
| Hydronephrosis Postaxial polydactyly | ||
| MKKS | ||
| Abdomen Congenital Heart Defects Females Follow-Up Studies Gynecologic Surgical Procedures Homo sapiens Hydrocolpos Infant, Newborn Magnetic Resonance Imaging Polydactyly Reconstructive Surgical Procedures Uterine Diseases Vagina | ||
| 2 (31.0%) |
22090721 (3214326) |
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. Chetta M, Bukvic N, Bafunno V, Sarno M, Magaldi R, Grilli G, Bertozzi V, Perfetto F, Margaglione M. Indian J Hum Genet. 2011;17(2):94-6. |
| Obesity Polydactyly | ||
| MKKS | ||
| c|SUB|A|-417|C p|SUB|A|242|S;RS#:74315394 p|SUB|I|339|V;RS#:137853909 rs1555801973 | ||
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030010 | Hydrometrocolpos | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000807 | Glandular hypospadias | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0100779 | Urogenital sinus anomaly | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001163 | Abnormality of the metacarpal bones | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001830 | Postaxial foot polydactyly | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004383 | Hypoplastic left heart | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0008368 | Tarsal synostosis | Occasional (29-5%) |
| HP:0012227 | Urethral stricture | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Very rare (4-1%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0030010 | Hydrometrocolpos | 17 |
| HP:0010442 | Polydactyly | 13 |
| HP:0100259 | Postaxial polydactyly | 8 |
| HP:0030711 | Hydrocolpos | 2 |
| HP:0000010 | Recurrent urinary tract infections | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0003762 | Uterus didelphys | 1 |
| HP:0005214 | Intestinal obstruction | 1 |
| HP:0031500 | Abdominal mass | 1 |