Overview
Autosomal recessive chorioretinopathy-microcephaly syndrome, also known as microcephaly with chorioretinopathy (or microcephaly-chorioretinopathy syndrome), is an extremely rare genetic disorder characterized by the combination of abnormally small head size (microcephaly) and progressive degeneration of the choroid and retina of the eye (chorioretinopathy). The condition primarily affects the central nervous system and the visual system. Affected individuals typically present with significant intellectual disability, developmental delay, and visual impairment that may progress to severe vision loss or blindness. Microcephaly is usually apparent at birth or in early infancy and reflects underlying impaired brain development. Additional features may include short stature and lymphedema in some reported cases. The chorioretinal changes involve atrophy and pigmentary abnormalities of the retina and choroid, which can be detected on ophthalmologic examination. The severity of neurological and visual involvement can vary among affected individuals, but most have moderate to severe cognitive impairment. Because this condition follows autosomal recessive inheritance, both parents are typically unaffected carriers of a pathogenic variant in the causative gene. Mutations in the TUBGCP6 gene (encoding a component of the gamma-tubulin ring complex involved in microtubule nucleation) have been implicated in some cases. There is currently no cure or disease-specific treatment for this syndrome. Management is supportive and multidisciplinary, involving regular ophthalmologic monitoring, neurological assessment, developmental support services, and rehabilitation therapies tailored to the individual's needs. Low-vision aids and educational accommodations may help optimize functional outcomes. Genetic counseling is recommended for affected families to discuss recurrence risks and reproductive options.
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive chorioretinopathy-microcephaly syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Common questions about Autosomal recessive chorioretinopathy-microcephaly syndrome
What is Autosomal recessive chorioretinopathy-microcephaly syndrome?
Autosomal recessive chorioretinopathy-microcephaly syndrome, also known as microcephaly with chorioretinopathy (or microcephaly-chorioretinopathy syndrome), is an extremely rare genetic disorder characterized by the combination of abnormally small head size (microcephaly) and progressive degeneration of the choroid and retina of the eye (chorioretinopathy). The condition primarily affects the central nervous system and the visual system. Affected individuals typically present with significant intellectual disability, developmental delay, and visual impairment that may progress to severe vision
How is Autosomal recessive chorioretinopathy-microcephaly syndrome inherited?
Autosomal recessive chorioretinopathy-microcephaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive chorioretinopathy-microcephaly syndrome typically begin?
Typical onset of Autosomal recessive chorioretinopathy-microcephaly syndrome is neonatal. Age of onset can vary across affected individuals.