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Meckel Gruber syndrome |
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Synonyms |
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Dysencephalia splancocystia
Meckel syndrome |
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Clinical |
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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) |
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Differential diagnosis |
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Encephalocele may be part of many syndromes and Meckel syndrome should
be particularly distinguished from neural tube defects.
Distinguish from the Hydrolethalus syndrome. |
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Genetics |
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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. |
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Traits |
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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 |
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