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ORPHA:564Malformation syndrome
Also called Dysencephalia splanchnocystica · Meckel-Gruber syndrome
What it is
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6Common30–79%
19- Ambiguous genitalia
- Aplasia/Hypoplasia of the iris
- Cataract
- Chorioretinal abnormality
- Cleft palate
- Cryptorchidism
- Depressed nasal ridge
- Full cheeks
- Hypertelorism
- Lobar holoprosencephaly
- Microcornea
- Micrognathia
- Microphthalmia
- Oligohydramnios
- Optic atrophy
- Posteriorly rotated ears
- Sclerocornea
- Sloping forehead
- Talipes
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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