Chitayat–Meunier–Hodgkinson syndrome

Chitayat–Meunier–Hodgkinson syndrome is a rare genetic disorder characterized by distinct facial features, skeletal abnormalities, and other systemic involvements. First described by Chitayat, Meunier, and Hodgkinson in the early 1990s, this syndrome has been identified in a small number of cases worldwide, contributing to a better understanding of its clinical spectrum and genetic basis.

Symptoms and Characteristics

Chitayat–Meunier–Hodgkinson syndrome is marked by a range of clinical manifestations, including:

• Distinct facial features:
• Hypertelorism (widely spaced eyes).
• Downslanting palpebral fissures.
• Broad nasal bridge.
• Micrognathia (a small jaw).
• Skeletal abnormalities:
• Skeletal dysplasia.
• Short stature.
• Scoliosis.
• Abnormalities in the hands and feet.
• Cardiovascular anomalies:
• Heart defects or other cardiovascular abnormalities.
• Intellectual disability:
• Varying degrees of developmental delay and cognitive impairments.

Genetics

The genetic basis of Chitayat–Meunier–Hodgkinson syndrome remains largely unknown. Current research aims to identify potential genetic mutations or chromosomal abnormalities responsible for the condition. It is believed to follow an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene (one from each parent) to be affected.

Diagnosis

Diagnosis is primarily based on:

• A thorough clinical evaluation.
• Identification of characteristic features.
• Genetic testing to investigate potential mutations, though specific genetic markers have not yet been identified.

Treatment and Management

There is no cure for Chitayat–Meunier–Hodgkinson syndrome. Treatment focuses on symptom management and supportive care. Common management strategies include:

• Orthopedic interventions: To address skeletal abnormalities, such as scoliosis.
• Cardiac care: Regular monitoring and treatment for cardiovascular anomalies.
• Developmental support: Early intervention programs and tailored educational support for intellectual disability or developmental delays.
• Multidisciplinary approach: Care by a team of healthcare providers, including:
• Geneticists.
• Orthopedic surgeons.
• Cardiologists.
• Developmental specialists.

Prognosis

The prognosis for individuals with Chitayat–Meunier–Hodgkinson syndrome varies based on the severity of symptoms and the presence of life-threatening complications, such as severe heart defects. Early diagnosis and comprehensive management can improve the quality of life for affected individuals.

See Also

• Genetic disorders
• Syndromes affecting multiple systems
• Developmental disorders
• Rare diseases

NIH genetic and rare disease info

• NIH info on Chitayat–Meunier–Hodgkinson syndrome

Chitayat–Meunier–Hodgkinson syndrome is a rare disease.

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