Sign Up for a Free Account
  • Updated 02.23.2024
  • Released 07.17.1995
  • Expires For CME 02.23.2027

Meckel-Gruber syndrome



Meckel-Gruber syndrome is a lethal, inherited genetic condition with genetic heterogeneity and variable expression and is the most severe of the ciliopathies. It is generally characterized by three major findings: occipital encephalocele, postaxial polydactyly, and bilateral dysplastic cystic kidneys.

Key points

• Meckel-Gruber syndrome is the most common syndromic condition involving a neural tube defect.

• Phenotypic changes are highly variable. Major deficits of Meckel-Gruber syndrome include renal cystic dysplasia, hepatic fibrosis with ductal plate malformation, polydactyly, and occipital encephalocele (or less commonly, Dandy-Walker malformation, holoprosencephaly, or another CNS anomaly).

• Prenatal or perinatal demise is common.

• The disorder is genetically heterogeneous and is inherited on an autosomal recessive basis, with a recurrence risk of 25%.

Historical note and terminology

Thought to be originally described by Johann Friedrich Meckel in a pair of siblings in 1822, the syndrome was further defined by Grüber in 1934 and labeled "dysencephalia splanchnocystica" (65; 37). Evidence suggests, however, that Christopher Krahe described a similar syndrome in a child born in Denmark in 1684 (46). Much later reports described features of 13-15 trisomy syndrome with normal karyotype (60; 66) or a familial polydactyly with central nervous system dysplasia (98). The identity of this syndrome was established in 1969 by Opitz and Howe, who described one case and thoroughly reviewed 43 observations reported in the literature to date (70). They proposed the eponym of "Meckel syndrome."

A striking combination of clinical features characterizes the syndrome, which is lethal when fully expressed. “Formes frustes” are frequent, sometimes in association with other malformation syndromes, and they are difficult to differentiate from other disorders (64; 58). Helpful diagnostic criteria were suggested by Fraser and Lytwyn and further refined by Salonen, Blankenberg and colleagues, and Ahdab-Barmada and Claassen (31; 82; 13; 04). Frequently used eponyms include "Meckel syndrome," "dysencephalia splanchnocystica of Grüber," or "Meckel-Grüber's syndrome."

This is an article preview.
Start a Free Account
to access the full version.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

Questions or Comment?

MedLink®, LLC

3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660



ISSN: 2831-9125