Meckel Syndrome, Type 1

Alternative Names

  • MKS1
  • Meckel Syndrome
  • MKS
  • MES
  • Dysencephalia Splanchnocystica
  • Gruber Syndrome
  • Meckel-Gruber Syndrome
  • Meckel-Gruber Syndrome, Type 1

Associated Genes

MKS1 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

249000

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q23

Description

Meckel syndrome is a major autosomal recessive monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth. It comprises of a classical triad of occipital meningo-encephalocele, infantile polycystic kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. Other features include facial clefts, microcephaly, cerebellar and cerebral hypoplasia, hydrocephalous, sloping forehead, congenital heart disease and pulmonary hypoplasia. Genital anomalies are hypoplastic penis, cryptorchidism, Mullerian-duct remnants and epididymal cysts in males. Septate vagina and hypoplastic or bicornuate uterus may, be associated in females. Pulmonary hypoplasia is the leading cause of death. The incidence of this syndrome worldwide varies from 1 in 13,250 to 1 in 140,000 live births.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
249000.1.1Saudi ArabiaUnknownYesYes Stillbirth; Renal cyst; Oligohydramn... NM_017777.3:c.417+1G>AHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 The patient had a si...
249000.2.1Saudi ArabiaUnknownYesYes Stillbirth; Renal cyst; Oligohydramn... NM_017777.4:c.1066C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016 The patient had 3 si...
249000.3.1Saudi ArabiaUnknownYesYes Stillbirth; Renal cyst; Encephaloc... NM_017777.4:c.1066C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016 The patient had 3 si...
249000.4.1Saudi ArabiaUnknownYesYes Stillbirth; Renal cyst; Encephal... NM_017777.4:c.1066C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Fetus was presumed t...
249000.5.1Saudi ArabiaUnknown Death in infancy; Microcephaly; Potter... NM_017777.4:c.1126dupHomozygousAutosomal, RecessiveShaheen et al. 2013
249000.6.1PalestineUnknownYes Neonatal death; Renal cyst; Occipital ... NM_017777.4:c.1048C>THomozygousAutosomal, RecessiveKhaddour et al. 2007
249000.6.2PalestineUnknownYes Neonatal death; Renal cyst; Occipita... NM_017777.4:c.1048C>THomozygousAutosomal, RecessiveKhaddour et al. 2007 Sibling of 249000.6....
249000.7PalestineUnknown Meckel syndrome... NM_017777.4:c.515+12C>THomozygousAutosomal, RecessiveKhaddour et al. 2007
249000.8MoroccoUnknown Meckel syndrome... NM_017777.4:c.1273+11G>AHomozygousAutosomal, RecessiveKhaddour et al. 2007
249000.9KuwaitUnknownYesYes Renal cyst; Postaxial polydactyly; Enc... NM_017777.4:c.515+1G>AHomozygousAutosomal, RecessiveFrank et al. 2007 The patient had a si...

Other Reports

Egypt

Teebi and Teebi (2005) indicated that Meckel syndrome is frequently diagnosed in Egypt.

Kuwait

Farag et al. (1990) described five Bedouin sibs with Meckel-Gruber syndrome. Teebi et al. (1992) and Teebi (1994) further emphasized the observation that Meckel syndrome is commonly encountered in Kuwait; especially the Bedouin population.

In a review of genetic diversity among Arabs, Teebi and Teebi (2005) indicated that Meckel syndrome has a prevalence of 1:3500 live births in Kuwait.

Oman

Suri and Gupta (1998) reported two unrelated neonates with Meckel Gruber's syndrome. [Suri K, Gupta B. Meckel Gruber's syndrome. Oman Med J. 1998; 15(1):34-6.]

Rajab et al. (2005) found that between 1993 and 2002, Meckel-Gruber syndrome was diagnosed in 9 patients, with an observed incidence of 1 in 50,000 births. Similarly, Sawardekar (2005) noted that during a 10-year period in an Omani hospital in Nizwa, twelve children were born with Meckel Gruber Syndrome. 

Palestine

Al-Gazali et al. (1996) reported a child, born to unrelated parents of Palestinian-Jordanian origin, with typical features of Meckel syndrome. This female child, as well as two previous females born to the family, exhibited posterior encephalocele, polycystic kidneys and no polydactyly. 

In 1997, Zlotogora (1997a) analyzed 2000 Palestinian Arabic families and found that in 98 families at least one individual had congenital hydrocephalus and/or open neural tube defect. In ten of these families, the brain malformation was part of Meckel syndrome. In the same year, Zlotogora (1997b) conducted a survey of 2000 different Palestinian Arab families. In 601 cases, an autosomal recessive disease was diagnosed or strongly suspected. 

In a review of genetic diversity among Arabs, Teebi and Teebi (2005) indicated that Meckel syndrome has a prevalence of 1:2000 live births in Jerusalem.

Saudi Arabia

Ramadani and Nasrat (1992) reported a rare case of Meckel-Gruber syndrome in a woman who had three affected offspring in the past with similar condition.

Patel (1992) evaluated 17 patients, age 1 day to 6 years with infantile polycystic kidney disease with ultrasound and other imaging techniques. Few rare findings such as liver cysts, associated Meckel syndrome, renal stone, bilateral vesicoureteric reflux and renal calcification were noted.

Teebi and Teebi (2005) indicated that Meckel syndrome is frequently diagnosed in the Arabian Peninsula.

Tunisia

Boutheina et al. (2000) carried out 43 prenatal diagnoses of lethal urinary tract abnormalities during a five-year-period. The abnormalities encountered included Meckel-Gruber syndrome in 4% of the cases.

United Arab Emirates

Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirths in Abu Dhabi, between 1992 and 1995 and observed 4 cases of Meckel syndrome born to consanguineous parents.

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