CHIME syndrome
(Redirected from Zunich–Kaye syndrome)
CHIME Syndrome | |
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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, 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:
- C – Coloboma (ocular defect)
- H – Heart defects
- I – Ichthyosiform dermatosis (scaly skin)
- M – Intellectual disability
- E – Ear anomalies
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:
- CHARGE syndrome – Similar coloboma and heart defects but different genetic cause.
- Neu-Laxova syndrome – Severe congenital ichthyosis with neurodevelopmental defects.
- Conradi–Hünermann syndrome – Ichthyosis and skeletal abnormalities.
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.
Rare and genetic diseases | ||||||
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Rare diseases - CHIME syndrome
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