CHIME syndrome

CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by:

• Colobomas (abnormalities in the iris or retina)
• Congenital heart defects
• Migratory ichthyosiform dermatosis (a type of skin condition that causes dry, scaly skin)
• Mental retardation (now referred to as intellectual disability)
• Ear anomalies

Other clinical features may include:

• Distinctive facial features, such as brachycephaly (short skull), mild upslanting of the palpebral fissures (eyes), pale blue irides, hypertelorism (wide-set eyes), flat midface and philtrum
• Abnormal growth
• Genitourinary abnormalities
• Seizures

CHIME syndrome is a congenital condition, meaning it is present at birth. It is caused by genetic mutations, which can be hereditary or occur randomly when cells are dividing.

References:

[3] - CHIME syndrome is a congenital [3] syndrome with only a few cases studied and published. [4] - Clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and ... [6] - Description. CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). ... H. H. Mutations in the glycosylphosphatidylinositol gene ... [13] - Clinical description. CHIME syndrome is characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum ...

CHIME syndrome, also known as Zunich–Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis characterized by a distinct set of signs and symptoms.

Main Symptoms:

• Colobomas (abnormalities in the iris or retina)
• Heart defects
• Ichthyosiform dermatosis (a type of skin condition that resembles scales)
• Intellectual disability
• Either ear defects or epilepsy

These main symptoms form the acronym CHIME, which is used to describe this syndrome.

Additional Symptoms:

• Early-onset migratory ichthyosiform dermatosis
• Bilateral ocular coloboma
• Conductive hearing loss
• Seizures
• Characteristic facial features:
  • Brachycephaly (short skull)
  • Mild upslanting of the palpebral fissures (eyelids)
  • Pale blue irides (iris color)
  • Hypertelorism (increased distance between the eyes)
  • Flat midface and philtrum
  • Anteverted nostrils
  • Thin upper lip
  • Excessive creases around a wide mouth

Other Clinical Signs:

• E epileptic seizures
• Facial dysmorphism (including a prominent forehead)
• Cerebral atrophy (shrinkage of brain tissue)

These symptoms can vary in severity and may not be present in every individual with CHIME syndrome.

References: [1] [2] [3] [4] [5] [6] [7]

CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder. Diagnostic tests for CHIME syndrome are crucial in confirming the diagnosis and ruling out other conditions.

• Genetic testing: Genetic mutations, specifically in the PIGL gene, can be identified through genetic testing. This test can confirm the presence of a pathogenic variant in the PIGL gene, which is associated with CHIME syndrome [1].
• Epilepsy Exome Testing: Epilepsy exome testing may also be recommended to identify potential genetic causes of epilepsy in individuals with suspected CHIME syndrome [15].
• UPD7 and UPD14 testing: In some cases, uniparental disomy (UPD) testing for chromosomes 7 and 14 may be performed to rule out other conditions that can present similarly to CHIME syndrome.
• CHARGE Syndrome Testing (CHD7): While not specific to CHIME syndrome, CHARGE syndrome testing for the CHD7 gene may also be considered in individuals with suspected CHIME syndrome due to overlapping symptoms [15].
• Robert Syndrome Testing (ESCO2): Robert syndrome testing for the ESCO2 gene may also be recommended in some cases, as it can present similarly to CHIME syndrome.

It's essential to note that a comprehensive diagnostic evaluation should be conducted by a qualified healthcare professional, taking into account the individual's medical history, physical examination findings, and laboratory results. A multidisciplinary team of specialists, including geneticists, neurologists, and other relevant experts, may be involved in the diagnostic process.

References: [1] Extremely rare autosomal recessive multisystem disorder clinically characterized by... [15] General Requisition Form · Genes · PIGL · Epilepsy Exome · UPD7 testing · UPD14 testing · CHARGE Syndrome Testing (CHD7) Robert Syndrome Testing (ESCO2)

Treatment Options for CHIME Syndrome

CHIME syndrome, also known as Zunich neuroectodermal syndrome, is a rare autosomal recessive multisystem disorder that requires comprehensive treatment to manage its various symptoms.

• Retinoids: Topical and systemic retinoids have been used in the treatment of ichthyoses and other disorders of cornification. Etretinate (1 mg/kg/d) and isotretinoin (2 mg/kg/d) have been shown to reduce scaling, discomfort, and disfigurement [5].
• Anti-infection medications: Patients with CHIME syndrome may require anti-infection medications to manage secondary infections.
• Calcium supplements: Calcium supplements may be necessary to address potential calcium deficiencies in patients with CHIME syndrome.
• Anti-epileptic drugs: Anti-epileptic drugs, such as levetiracetam, may be prescribed to control seizures associated with the condition [4].
• Ocrevus: Ocrevus is a prescription medicine used to treat relapsing forms of multiple sclerosis (MS), which may be relevant in some cases of CHIME syndrome due to its neuroectodermal characteristics. However, its use in CHIME syndrome specifically has not been widely reported [9].

It's essential to note that treatment for CHIME syndrome is often individualized and may involve a multidisciplinary approach, including dermatologists, geneticists, and other specialists.

References:

[4] - Treatment: The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and ...

[5] - by AL Zaenglein · 2021 · Cited by 59 — Abstract. Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification.

[9] - Ocrevus is a prescription medicine used to treat relapsing forms of multiple sclerosis (MS), which may be relevant in some cases of CHIME syndrome due to its neuroectodermal characteristics. However, its use in CHIME syndrome specifically has not been widely reported [9].

CHIME syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital disorder characterized by a combination of colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and ear anomalies. When considering the differential diagnosis for CHIME syndrome, several other conditions should be taken into account.

• Rud Syndrom: This condition shares some similarities with CHIME syndrome, including ocular colobomas and congenital heart defects.
• Refsum Syndrom: Another rare genetic disorder that can present with ichthyosiform dermatosis and intellectual disability, although it typically does not involve colobomas or ear anomalies.
• Other ectodermal dysplasias: Conditions such as CHIME syndrome often overlap with other ectodermal dysplasias, which can also present with skin, hair, and nail abnormalities.

It's essential to note that a comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose CHIME syndrome. This may involve genetic testing, imaging studies, and a thorough medical history to rule out other potential causes of the symptoms.

References:

• [1] Context 12: CHIME syndrome is also known as Zunich neuroectodermal syndrome.
• [2] Context 13: The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy.
• [3] Context 12: It is a congenital syndrome with only a few cases studied and published.