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McKusick Kaufman syndrome(MKKS)

MedGen UID:
184924
Concept ID:
C0948368
Disease or Syndrome
Synonyms: Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; MKKS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (702407009); McKusick Kaufman syndrome (702407009)
 
Gene (location): MKKS (20p12.2)
OMIM®: 236700

Definition

McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. Cardiac malformations that have been described at least once in individuals with MKS include atrioventricularis (AV) communis with a left-sided superior vena cava, atrial septal defect, ventricular septal defect, AV canal, small aorta and hypoplastic left ventricle, tetralogy of Fallot, and patent ductus arteriosus. [from GTR]

Additional descriptions

From GeneReviews
McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. Cardiac malformations that have been described at least once in individuals with MKS include atrioventricularis (AV) communis with a left-sided superior vena cava, atrial septal defect, ventricular septal defect, AV canal, small aorta and hypoplastic left ventricle, tetralogy of Fallot, and patent ductus arteriosus.  https://www.ncbi.nlm.nih.gov/books/NBK1502
From OMIM
McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).  http://www.omim.org/entry/236700
From GHR
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism).The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.  https://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome

Clinical features

Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
An abnormal anatomical passage between the RECTUM and the VAGINA.
Vesicovaginal fistula
MedGen UID:
22640
Concept ID:
C0042582
Disease or Syndrome
An abnormal anatomical passage between the URINARY BLADDER and the VAGINA.
Hydrometrocolpos
MedGen UID:
82843
Concept ID:
C0269209
Disease or Syndrome
Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
Dilatation of the ureter caused by obstruction of urine flow.
Vaginal atresia
MedGen UID:
232948
Concept ID:
C1321884
Congenital Abnormality
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
Transverse vaginal septum
MedGen UID:
341032
Concept ID:
C1856006
Finding
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Edema of the lower limbs
MedGen UID:
116006
Concept ID:
C0235886
Pathologic Function
An abnormal accumulation of fluid beneath the skin of the legs.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Mesoaxial hand polydactyly
MedGen UID:
866528
Concept ID:
C4020820
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Aganglionic megacolon
MedGen UID:
6285
Concept ID:
C0025160
Pathologic Function
An abnormal dilation of the colon not due to obstruction.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
An abnormal anatomical passage between the RECTUM and the VAGINA.
Aganglionic megacolon
MedGen UID:
6285
Concept ID:
C0025160
Pathologic Function
An abnormal dilation of the colon not due to obstruction.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
An abnormal anatomical passage between the RECTUM and the VAGINA.
Vesicovaginal fistula
MedGen UID:
22640
Concept ID:
C0042582
Disease or Syndrome
An abnormal anatomical passage between the URINARY BLADDER and the VAGINA.
Hydrometrocolpos
MedGen UID:
82843
Concept ID:
C0269209
Disease or Syndrome
Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
Dilatation of the ureter caused by obstruction of urine flow.
Vaginal atresia
MedGen UID:
232948
Concept ID:
C1321884
Congenital Abnormality
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
Transverse vaginal septum
MedGen UID:
341032
Concept ID:
C1856006
Finding
Edema
MedGen UID:
4451
Concept ID:
C0013604
Sign or Symptom
Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.
Edema of the lower limbs
MedGen UID:
116006
Concept ID:
C0235886
Pathologic Function
An abnormal accumulation of fluid beneath the skin of the legs.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Mesoaxial hand polydactyly
MedGen UID:
866528
Concept ID:
C4020820
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.

Recent clinical studies

Etiology

Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, Baye LM, Sheffield VC, Slusarski DC
PLoS Genet 2017 Jul;13(7):e1006936. Epub 2017 Jul 28 doi: 10.1371/journal.pgen.1006936. PMID: 28753627Free PMC Article
Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV
Mol Vis 2016;22:73-81. Epub 2016 Jan 24 PMID: 26900326Free PMC Article
Hotta K, Nakamura T, Takasaki J, Takahashi H, Takahashi A, Nakata Y, Kamohara S, Kotani K, Komatsu R, Itoh N, Mineo I, Wada J, Masuzaki H, Yoneda M, Nakajima A, Funahashi T, Miyazaki S, Tokunaga K, Hamaguchi K, Tanaka K, Yamada K, Hanafusa T, Oikawa S, Yoshimatsu H, Nakao K, Sakata T, Matsuzawa Y, Kamatani N, Nakamura Y
J Hum Genet 2009 Apr;54(4):230-5. Epub 2009 Feb 27 doi: 10.1038/jhg.2009.16. PMID: 19247371
Nakane T, Biesecker LG
Am J Med Genet A 2005 Sep 15;138(1):32-4. doi: 10.1002/ajmg.a.30593. PMID: 16104012
Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG
Hum Genet 2002 Jun;110(6):561-7. Epub 2002 May 9 doi: 10.1007/s00439-002-0733-3. PMID: 12107442

Diagnosis

Tsai HF, Wu MH, Cheng YC, Chang CH, Chang FM
Taiwan J Obstet Gynecol 2014 Jun;53(2):241-4. doi: 10.1016/j.tjog.2012.07.042. PMID: 25017277
Lueth ET, Wood KE
J Pediatr Adolesc Gynecol 2014 Dec;27(6):e125-6. Epub 2014 Mar 19 doi: 10.1016/j.jpag.2013.10.002. PMID: 24656697
Zewdneh D, Shewarega Z
Ethiop Med J 2011 Jul;49(3):279-82. PMID: 21991762
Sonmez K, Turkyilmaz Z, Karabulut R, Turan O, Onal EE, Aslan D, Basaklar AC
Bratisl Lek Listy 2011;112(9):524-6. PMID: 21954533
Slavin TP, McCandless SE, Lazebnik N
J Clin Ultrasound 2010 Mar-Apr;38(3):151-5. doi: 10.1002/jcu.20663. PMID: 20091696

Prognosis

Tilahun B, Woldegebriel F, Wolde Z, Tadele H
Ethiop J Health Sci 2016 Jan;26(1):89-91. PMID: 26949322Free PMC Article
Ciftci I, Tastekin A, Annagur A, Koplay M
Afr J Paediatr Surg 2013 Apr-Jun;10(2):188-91. doi: 10.4103/0189-6725.115053. PMID: 23860075
Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H
Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29 doi: 10.1016/j.ejmg.2010.10.004. PMID: 21044901
Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG
Nat Genet 2000 May;25(1):79-82. doi: 10.1038/75637. PMID: 10802661
Arcellana RC, Robinson TW, Tyson RW, Joyce MR
J Perinatol 1996 May-Jun;16(3 Pt 1):220-3. PMID: 8817436

Clinical prediction guides

Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV
Mol Vis 2016;22:73-81. Epub 2016 Jan 24 PMID: 26900326Free PMC Article
Toma HS, Tan PL, McKusick VA, Katsanis N, Adams NA
Ophthalmic Genet 2007 Jun;28(2):95-9. doi: 10.1080/13816810701209545. PMID: 17558852
Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG
Nat Genet 2000 May;25(1):79-82. doi: 10.1038/75637. PMID: 10802661
Stone DL, Agarwala R, Schäffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG
Hum Mol Genet 1998 Mar;7(3):475-81. PMID: 9467007
Lurie IW, Wulfsberg EA
Genet Couns 1994;5(3):275-81. PMID: 7811428

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