Paula and Bobby
Parents of Lillie
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome
What is Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome?
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome is a rare disease. It is also known as Cednik Syndrome Sprecher (2005) - cortical dysplasia, ichthyosis, palmoplantar keratoderma.
Sprecher et al., (2005) described two consanguineous Arab families with seven affected persons. Roving eye movements, poor head control, and failure to thrive were the presenting symptoms in the first months of life. Patients had progressive microcephaly, and developed palmoplantar keratoderma and ichthyosis between 5 and 11 months, worsening in the 2nd year of life. Peripheral reflexes could not be elicited, development was severely delayed. Facial dysmorphism included a long face, downward slanted palpebral fissures, hypertelorism, and flat and broad nasal bridge. Brain MRI showed cortical dysplasia (pachygyria, polymicrogyria). Three (male) patients died of aspiration pneumonia between 5 and 12 years. Through linkage analysis (identity by descent) and direct sequencing they found a mutation (220delG) in the SNAP29 gene, a SNARE protein involved in vesicle function.
Two Pakistani sibs with this condition were reported by Fuchs-Telem et al., (2011). Again there was a combination of CNS problems (polymicrogyria especially frontally) with palmoplantar hyperkeratosis and mild ichthyosis. The hair was sparse, coarse and brittle. Mutations in SNAP29 were found.
* This information is courtesy of the L M D.
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What gene changes cause Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 609528 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
SNAP29 - 22q11.21
What are the main symptoms of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome?
The typical symptoms of the syndrome are:
Cerebral ischemia, Abnormal corpus callosum morphology, Abnormality of the genital system, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Areflexia, Abnormality of the dentition, Abnormal pericardium morphology, Wide nasal bridge, Autosomal recessive inheritance, Sensorineural hearing impairment, Optic atrophy, Seizure, Polymicrogyria, Poor head control, Pachygyria, Peripheral neuropathy, Polyneuropathy, Palmoplantar keratoderma, Proteinuria, Hypertrophic cardiomyopathy, Hypertelorism, Short stature, Incoordination, Nephrotic syndrome, Ichthyosis, Optic disc hypoplasia, Global developmental delay, Cognitive impairment, Prominent nasal bridge, Gastrointestinal hemorrhage, Depressed nasal bridge, Abnormality of neuronal migration, Long face, Macrotia, Abnormality of eye movement, Muscular hypotonia, Intellectual disability, progressive, Intellectual disability, severe, Progressive microcephaly, Infantile onset, Microcephaly, Reduced tendon reflexes, Decreased ne
How does someone get tested for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome?
The initial testing for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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