Chemke–Oliver–Mallek syndrome

Chemke–Oliver–Mallek Syndrome (COMS), also known as Autosomal Recessive Robinow Syndrome, is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and other developmental anomalies. This syndrome was first described by Chemke, Oliver, and Mallek, after whom it is named, highlighting its unique clinical features and genetic background.

Symptoms and Characteristics

COMS is marked by a range of clinical manifestations, including:

• Dwarfism: Individuals with COMS typically exhibit short stature due to growth deficiencies.
• Facial Features: Distinctive facial characteristics such as a prominent forehead, wide-set eyes (Hypertelorism), a short nose with an upturned tip, and a wide mouth with downturned corners are common.
• Skeletal Abnormalities: These may include vertebral segmentation anomalies, rib abnormalities, and limb deformities.
• Genitourinary Anomalies: Some affected individuals may have abnormalities affecting the kidneys and genitalia.
• Dental Issues: Delayed dental development and abnormalities in tooth shape or number can occur.

Genetics

COMS is inherited in an Autosomal Recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome. The specific genes implicated in COMS have not been definitively identified, making genetic counseling and diagnosis challenging.

Diagnosis

Diagnosis of Chemke–Oliver–Mallek Syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be helpful in confirming the diagnosis, although the absence of identified causative genes limits this approach. Prenatal diagnosis through genetic testing of fetal DNA is theoretically possible in families with a known history of COMS, but is not commonly practiced due to the rarity of the syndrome and the lack of specific genetic markers.

Management and Treatment

There is no cure for COMS, and treatment is symptomatic and supportive. Management strategies may include:

• Growth Hormone Therapy: To address short stature, although its effectiveness varies.
• Orthopedic Interventions: Surgical and non-surgical treatments for skeletal abnormalities.
• Dental Care: Regular dental check-ups and corrective treatments for dental anomalies.
• Supportive Therapies: Physical therapy, occupational therapy, and speech therapy can help improve mobility, daily functioning, and communication skills.

Prognosis

The prognosis for individuals with Chemke–Oliver–Mallek Syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate medical and supportive care, many individuals with COMS can lead active and fulfilling lives.

See Also

• Genetic Disorder
• Dwarfism
• Autosomal Recessive Inheritance
• Robinow Syndrome