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CEDNIK syndrome
ICD-10 Codes
Related ICD-10:
Description
CEDNIK Syndrome: A Rare Neurocutaneous Disorder
CEDNIK syndrome, also known as cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome, is a rare genetic disorder that affects the development of both the nervous system and the skin. The condition is characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis [1].
Clinical Manifestations
CEDNIK syndrome presents with a unique constellation of clinical manifestations, including:
- Global developmental delay with hypotonia (low muscle tone)
- Roving eye movements or nystagmus
- Severe developmental failure of the nervous system and the epidermis
These symptoms are often present at birth or appear in early childhood [3].
Genetic Basis
CEDNIK syndrome is caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (SNAP29) gene, which plays a crucial role in synaptic vesicle fusion and neurotransmitter release [6]. This genetic mutation leads to the characteristic symptoms of CEDNIK syndrome.
Other Key Points
- CEDNIK syndrome is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition.
- The condition is rare and affects a small number of people worldwide.
- Early diagnosis and management are essential for improving outcomes in individuals with CEDNIK syndrome.
References:
[1] - A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. (Search result 1) [3] - CEDNIK refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus. (Search result 3) [6] - CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (SNAP29) gene... (Search result 6)
Additional Characteristics
- CEDNIK syndrome
- Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
- Rare genetic disorder affecting nervous system and skin development
- Global developmental delay with hypotonia
- Roving eye movements or nystagmus
- Severe developmental failure of nervous system and epidermis
- Biallelic pathogenic loss-of-function variants in SNAP29 gene
Signs and Symptoms
CEDNIK syndrome, also known as Congenital Epidermolytic Hyperkeratosis associated with Neurological Impairment and Keratitis, is a rare genetic disorder that affects the nervous system and skin. The signs and symptoms of CEDNIK syndrome can vary in severity and may include:
- Severe developmental abnormalities: Individuals with CEDNIK syndrome often have significant delays in reaching developmental milestones [3].
- Vision or hearing loss: Many patients experience vision or hearing impairments, which can range from mild to severe [3].
- Dysmorphic facial features: People with CEDNIK syndrome may have distinctive facial characteristics that are different from the average population [4].
- Microcephaly: Some individuals may be born with a smaller-than-average head size (microcephaly) [6, 8].
- Cerebral dysgenesis: This refers to abnormal brain development, which can lead to various neurological symptoms [5, 7, 9].
- Ichthyosis: A condition characterized by dry, scaly skin that may be present at birth or develop later in life [4, 6].
- Palmoplantar keratoderma: This is a thickening of the skin on the palms and soles, which can lead to discomfort and difficulty walking [5, 7].
It's essential to note that each individual with CEDNIK syndrome may exhibit a unique combination of these symptoms, and their severity can vary widely.
Additional Symptoms
- Microcephaly
- Palmoplantar keratoderma
- Ichthyosis
- Dysmorphic facial features
- Severe developmental abnormalities
- Cerebral dysgenesis
- loss of vision
Diagnostic Tests
Diagnostic Tests for CEDNIK Syndrome
CEDNIK syndrome, a rare neurocutaneous disorder, requires accurate diagnosis to provide appropriate care and management. The following diagnostic tests can help confirm the condition:
- Genetic testing: Molecular genetic testing is considered the gold standard for diagnosing CEDNIK syndrome [9]. This involves analyzing DNA samples from affected individuals or family members to identify pathogenic variants in the SNAP29 gene.
- Whole-Exome Sequencing (WES): WES can also be used to diagnose CEDNIK syndrome, especially when a known family history is present [4].
- Imaging studies: MRI scans may show characteristic findings such as hypoplasia/dysplasia of the corpus callosum and polymicrogyria (PMG) [6]. However, these imaging studies are not specific to CEDNIK syndrome and should be interpreted in conjunction with genetic testing results.
It's essential to note that a combination of clinical evaluation, family history, and genetic testing is necessary for an accurate diagnosis. A neurologist or a genetic counselor can help guide the diagnostic process.
References:
- [4] WES and molecular genetic testing are considered to be the gold standard for the diagnosis.
- [6] Typical MRI findings are hypoplasia/dysplasia of the corpus callosum and polymicrogyria (PMG).
- [9] Molecular genetic testing is considered the gold standard for diagnosing CEDNIK syndrome.
Additional Diagnostic Tests
- Genetic testing
- Imaging studies
- Whole-Exome Sequencing (WES)
Treatment
CEDNIK syndrome, a rare genetic neurocutaneous disease, requires careful management to alleviate its symptoms. While there is no curative therapy available for this syndrome, drug treatment can help manage some of the associated conditions.
Neurological Disorders: In some cases, antiepileptic medication has been effective in controlling seizures, as seen in one reported case where seizures stopped by the age of 10 [3,5]. However, it's essential to consult with a healthcare professional for personalized advice and treatment.
Cosmetic Correction: Surgical procedures can be performed to correct facial abnormalities for cosmetic purposes [9].
Other Considerations: While drug therapy may be necessary for neurological disorders, there is currently no curative therapy available for CEDNIK syndrome. The lifespan of individuals with this syndrome is limited due to the severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis [1,6].
It's crucial to consult with a healthcare professional for medical advice and treatment specific to each individual case.
References: [1] by S Karunakaran · 2021 · Cited by 4 — [3] by AY Mah-Som · 2021 · Cited by 13 — [5] by AY Mah-Som · 2021 · Cited by 13 — [6] by S Karunakaran · 2021 · Cited by 4 — [9] by D Lorenzo-Ríos · 2024 —
Recommended Medications
- antiepileptic medication
- cosmetic
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare autosomal recessive neuro-cutaneous disorder [6]. The differential diagnoses of CEDNIK syndrome include other neuro-ichthyosis disorders of lipid metabolism (Sjögren-Larsson's syndrome [8]).
Other conditions that may be considered in the differential diagnosis of CEDNIK syndrome are:
- Neurological disorders: Global developmental delay, hypotonia, and neuropathy are common features of CEDNIK syndrome. These symptoms can also be present in other neurological disorders such as cerebral dysgenesis, microcephaly, and facial dysmorphism [9].
- Ichthyosis and keratoderma: The presence of ichthyosis and keratoderma is a key feature of CEDNIK syndrome. However, these skin manifestations can also be present in other conditions such as Sjögren-Larsson's syndrome and palmoplantar keratoderma [8].
- Neuro-cutaneous disorders: CEDNIK syndrome is a rare autosomal recessive neuro-cutaneous disorder. Other neuro-cutaneous disorders that may be considered in the differential diagnosis include tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome.
It's worth noting that the differential diagnoses of CEDNIK syndrome are not exhaustive and other conditions may also need to be considered on a case-by-case basis. A comprehensive evaluation by a multidisciplinary team of healthcare professionals is essential for an accurate diagnosis and management plan [8].
References: [6] H Tiwana · 2019 · Cited by 3 — [8] by S Bijarnia-Mahay · 2024 —
Additional Differential Diagnoses
- Neurological disorders
- Palmoplantar keratoderma
- Tuberous sclerosis complex
- Ichthyosis and keratoderma
- Neuro-cutaneous disorders
- N syndrome
- neurofibromatosis 1
- Sturge-Weber syndrome
Additional Information
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