Meckel's syndrome

A lethal malformation complex characterised by occipital encephalocele, polycystic kidneys, polydactyly, microcephaly, microphthalmia, clefted palate, cataracts, congenital heart defect, genital anomalies, abnormal facies, and polycystic degeneration of the kidneys, liver, and pancreas. Polydactyly, the most common skeletal feature, involves all four limbs and presents hexadactyly, heptodactyly, or even a greater number of digits. Anencephaly and/or agenesis or hypoplasia of the cerebellum may occur. Death occurs within days or weeks. Aetiology unknown. Prevalent in females; present from birth. Inheritance is autosomal recessive, parental consanguinity occurring in some cases.

After Meckel, the syndrome was described by Willem Vrolik (1801-1863) in 1854, by August Förster (1822-1865) in 1862, and by Johann Ludwig Casper in 1864. However, the identity of this syndrome was not established until 1969, when John Marius Opitz (1935–) and J. J. Howe proposed the name Meckel syndrome. They delineated its clinical and pathological features. S. Mecke and E. Passarge confirmed the autosomal recessive hypothesis by a a priori method. Nowadays it is clearly an autosomal recessive disorder.

Von Hippel-Lindau syndrome is a different entity characterised by angiomatosis of the retina, haemangioblastoma of the cerebellum and walls of the fourth ventricle, commonly associated with polycystic lesions of the kidney and pancreas. Main entry as von Hippel-Lindau disease, under Eugen von Hippel, German ophthalmologist, 1867-1939.

• J. F. Meckel:
  Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, 7: 99-172.
• W. Vrolik:
  Tabulae ad illustrandum embryogenesis hominis et mammalium, tam naturalem quam abnormem. Tab. LX: Imperfecta maxillae inferioris conditio.
  T.O. Weigel ed. Leipzig, 1854.
• A. Förster:
  Zur Casuistik der Hirnkrankheiten.
  Würzburger medicinische Zeitschrift, 1862, 3: 193-210.
• Johann Ludwig Casper:
  Eine Missgeburt selttenster Art. Lebensfähigkeit.
  Berliner klinische Wochenschrift, 1864, 1, 9-10.
• G. B. Gruber:
  Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica.
  Beitr path Anat, 1934, 93: 459-476.
• A. P. Simopoulos, G. C. Breuan, A. Alwan, et al:
  Polycystic kidneys, internal hydrocephalus, and polydactylism in newborn siblings.
  Pediatrics, Evanston, IL., 1967, 39: 931-934.
• J. Opitz, J. J. Howe:
  The Meckel Syndrome (Dysencephalia splanchnocystica, the Gruber syndrome).
  In: Congenital malformations Syndromes, Birth Defects: Original Article Series, 1969, 2: 167-179. The National Foundation, New York.
• S. Mecke, E. Passarge:
  Encephalocele, Polycystic Kidneys, and Polydactyly as an Autosomal Recessive Trait simulating certain other Disorders: The Meckel Syndrome.
  Annales de génétique, Paris, 1971, 14(2): 97-103.