CHIME syndrome

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(Redirected from Zunich–Kaye syndrome)

CHIME Syndrome
Synonyms Zunich–Kaye Syndrome
Pronounce N/A
Specialty N/A
Symptoms Coloboma, Heart defects, Ichthyosiform dermatosis, Intellectual disability, Ear anomalies
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Autosomal recessive mutation in PIGL gene
Risks N/A
Diagnosis Clinical evaluation, Genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis N/A
Frequency Extremely rare
Deaths N/A


CHIME syndrome

CHIME Syndrome, also known as Zunich–Kaye Syndrome, is a rare autosomal recessive genetic disorder characterized by a constellation of congenital anomalies, primarily affecting the eyes, heart, skin, nervous system, and ears. The acronym CHIME represents the core clinical features:

Signs and Symptoms

The clinical presentation of CHIME Syndrome is variable, but the following features are commonly observed:

Craniofacial and Ocular Features

  • Coloboma – Congenital defect in the eye affecting the iris, retina, choroid, or optic nerve.
  • Facial dysmorphism – Wide nasal bridge, low-set ears, hypertelorism (widely spaced eyes).
  • Strabismus – Misalignment of the eyes.
  • Microphthalmia – Small or underdeveloped eyes.

Cardiac Features

  • Congenital heart defects, such as:
  • Atrial septal defect (ASD)
  • Ventricular septal defect (VSD)
  • Patent ductus arteriosus (PDA)

Dermatological Features

  • Ichthyosiform dermatosis – Dry, scaly, thickened skin, resembling ichthyosis.
  • Erythema – Persistent redness of the skin.

Neurological and Developmental Features

  • Intellectual disability – Ranging from mild to severe cognitive impairment.
  • Hypotonia – Decreased muscle tone.
  • Seizures – Reported in some cases.
  • Global developmental delay – Delayed milestones in speech, motor function, and learning abilities.

Ear and Hearing Anomalies

  • Low-set, malformed ears
  • Hearing loss – May be sensorineural or conductive.

Genetics and Pathophysiology

CHIME Syndrome is caused by mutations in the PIGL gene, located on chromosome 17q12.

  • PIGL encodes an enzyme involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis, which is crucial for cell membrane protein attachment.
  • Mutations disrupt protein anchoring, leading to abnormal development of multiple organ systems.

The condition follows an autosomal recessive inheritance pattern, meaning:

  • Two copies of the mutated gene (one from each parent) are required to manifest the disorder.
  • Parents are typically asymptomatic carriers.

Diagnosis

Clinical Evaluation Diagnosis is primarily clinical, based on the characteristic combination of:

  • Ophthalmologic examination (coloboma)
  • Cardiac assessment (echocardiogram)
  • Skin biopsy (ichthyosiform dermatosis)
  • Neurological evaluation (intellectual disability, developmental delay)

Genetic Testing

  • Whole exome sequencing can confirm PIGL mutations.
  • Targeted genetic analysis for suspected familial cases.

Differential Diagnosis

Conditions that mimic CHIME Syndrome include:

Treatment and Management

There is no cure for CHIME Syndrome, and treatment is supportive and symptomatic:

Ophthalmic Management

  • Regular ophthalmologic follow-ups to monitor coloboma-related vision loss.
  • Corrective lenses or surgery for strabismus.

Cardiac Care

  • Surgical correction for congenital heart defects (if needed).
  • Echocardiographic monitoring.

Dermatological Care

  • Emollients and keratolytics for ichthyosiform dermatosis.
  • Topical retinoids to reduce skin scaling.

Developmental and Neurological Support

  • Speech therapy, occupational therapy, and physical therapy for developmental delays.
  • Antiepileptic drugs (AEDs) if seizures occur.

Hearing Support

  • Hearing aids or cochlear implants if significant hearing loss is present.

Prognosis

  • Lifelong condition with variable severity.
  • Early intervention and supportive therapies improve quality of life.
  • Cardiac anomalies and neurological complications influence overall prognosis.

Epidemiology

  • Extremely rare, with only a few documented cases worldwide.
  • No known ethnic or geographical predisposition.

See Also

NIH genetic and rare disease info

CHIME syndrome is a rare disease.


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