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Meckel syndrome type 6(MKS6)

MedGen UID:
382942
Concept ID:
C2676790
Disease or Syndrome
Synonyms: CC2D2A-Related Meckel Syndrome; MKS6
 
Gene (location): CC2D2A (4p15.32)
OMIM®: 612284

Definition

Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.
[from GHR]

Clinical features

Renal cyst
MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
A fluid filled sac in the kidney.
Abnormal internal genitalia
MedGen UID:
871334
Concept ID:
C4025824
Anatomical Abnormality
An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Anencephalus
MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in several genes. The entity described here is believed to show autosomal recessive inheritance.
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
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.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of fibrosis of the liver tissue.
Bile duct proliferation
MedGen UID:
120603
Concept ID:
C0267818
Disease or Syndrome
Proliferative changes of the bile ducts.
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Cleft lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.

Professional guidelines

PubMed

Salonen R, Kestilä M, Bergmann C
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2010.255. [Epub ahead of print] PMID: 21368913Free PMC Article

Recent clinical studies

Etiology

Abdelhamed ZA, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ
Dis Model Mech 2015 Jun;8(6):527-41. Epub 2015 Apr 7 doi: 10.1242/dmm.019083. [Epub ahead of print] PMID: 26035863Free PMC Article
Jones D, Fiozzo F, Waters B, McKnight D, Brown S
Ultrasound Obstet Gynecol 2014 Dec;44(6):719-21. Epub 2014 Oct 27 doi: 10.1002/uog.13381. [Epub ahead of print] PMID: 24706459
Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N
Arch Gynecol Obstet 2012 Oct;286(4):917-21. Epub 2012 Jun 15 doi: 10.1007/s00404-012-2411-6. [Epub ahead of print] PMID: 22699515

Diagnosis

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. [Epub ahead of print] PMID: 25182137Free PMC Article
Jones D, Fiozzo F, Waters B, McKnight D, Brown S
Ultrasound Obstet Gynecol 2014 Dec;44(6):719-21. Epub 2014 Oct 27 doi: 10.1002/uog.13381. [Epub ahead of print] PMID: 24706459
Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N
Arch Gynecol Obstet 2012 Oct;286(4):917-21. Epub 2012 Jun 15 doi: 10.1007/s00404-012-2411-6. [Epub ahead of print] PMID: 22699515
Moses M, Ranger A, Yazdani A
J Craniofac Surg 2011 Nov;22(6):2288-91. doi: 10.1097/SCS.0b013e318232a5d0. PMID: 22134259
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Hum Mutat 2011 Jun;32(6):573-8. Epub 2011 May 5 doi: 10.1002/humu.21507. [Epub ahead of print] PMID: 21462283

Clinical prediction guides

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. [Epub ahead of print] PMID: 25182137Free PMC Article
Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS
Hum Mutat 2011 Jun;32(6):573-8. Epub 2011 May 5 doi: 10.1002/humu.21507. [Epub ahead of print] PMID: 21462283

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