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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Meckel Gruber syndrome  
     
 
  
 
     
  Synonyms  
  Dysencephalia splancocystia
Meckel syndrome
 
     
  Clinical  
  Association of encephalocele, polycystic kidneys, intrahepatic bile duct anomalies and polydactyly. Other features may include anophthalmia / microphthalmia, cleft / lip palate, hepatic fobrosis, ambiguous genitalia, heart defects and polymicrogyria. Skeletal abnormalities reported (Shanks).
Variable expression. Some family members reported with one-two features only. Eg: Polydactyly (Gulati, Wright, Nelson)
 
     
  Differential diagnosis  
  Encephalocele may be part of many syndromes and Meckel syndrome should be particularly distinguished from neural tube defects.
Distinguish from the Hydrolethalus syndrome.
 
     
  Genetics  
  Autosomal recessive.
Gene map locus 17q21-q24
A second locus has been identified at 11q13
Warning: We had found the traits listed below for matching this diagnosis. The traits are not intended to define this syndrome.
 
     
  Traits  
 
Autosomal recessive
Chromosome 11
Chromosome 17
Arm q
Stillbirth / Neonatal death
Haemangioma - naevus flammeus
Macrocephaly
Microcephaly
Backward sloping forehead
Sutural synostosis
Scalp defect
Facies significantly abnormal
Hypotelorism (including Cyclops)
Micrognathia / agnathia / retrognathia
Anophthalmos / microphthalmos
Coloboma of Iris
Other anterior segment abnormality
Visual loss - severe
Paramedian / lateral cleft lip (uni / bilateral)
Midline cleft lip
Cleft hard palate
Premature eruption of teeth
Cleft / notched tongue
Webbed neck / excess skin / cystic hygroma
Umbilical hernia
Polydactyly - postaxial (ulnar) / type unspecified
Clynodactyly of 5th finger
Talipes
Polydactyly of feet - postaxial / type unspecified
Anencephaly
Encephalocele / cranial meningocoele
Hydrocephalus / dialated cerebral ventricles
Dandy-Walker malformation
Arnold-Chiari malformation
Holoprosencephaly / arhinencephaly
Agenesis / hypoplasia of corpus callosum
Cerebellum agenesis / hypoplasia
Hypoplastic lungs
Shunt VSD / ASD / PDA
Other intestinal artesia
Imperforate anus / anal stenosis
Hepatic fibrosis / biliary fibrosis