Ter Haar syndrome

Ter Haar syndrome is a rare genetic disorder characterized by a range of physical and developmental anomalies. It is named after B. Ter Haar, who first described the syndrome in 1982. The condition is also known by other names, including BTHS, Ter Haar-Brunn-Hooft syndrome, and craniocarpotarsal dysplasia. Ter Haar syndrome is notable for its clinical heterogeneity, meaning that the symptoms and their severity can vary significantly among affected individuals.

Symptoms and Characteristics

The hallmark features of Ter Haar syndrome include skeletal abnormalities, congenital heart defects, distinctive facial features, and developmental delays. Skeletal abnormalities often involve the hands and feet, with patients exhibiting camptodactyly (permanent flexion of one or more fingers) and talipes equinovarus (clubfoot). Congenital heart defects vary in type and severity, while the distinctive facial features may include a prominent forehead, hypertelorism (widely spaced eyes), and a small chin. Developmental delays are also common, affecting both physical and intellectual development.

Causes

Ter Haar syndrome is believed to be caused by genetic mutations, although the specific genes involved have not been conclusively identified. It is thought to be 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.

Diagnosis

Diagnosis of Ter Haar syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be helpful in confirming the diagnosis, especially in cases where the genetic cause is known. However, due to the rarity of the condition and the lack of specific genetic markers, diagnosis can be challenging.

Treatment

There is no cure for Ter Haar syndrome, and treatment is symptomatic and supportive. Management of the condition may involve a multidisciplinary approach, including orthopedic surgery to correct skeletal deformities, cardiology consultations for heart defects, and physical therapy to improve mobility and muscle strength. Early intervention and supportive therapies can help manage symptoms and improve the quality of life for affected individuals.

Prognosis

The prognosis for individuals with Ter Haar syndrome varies depending on the severity of symptoms and the presence of congenital heart defects. With appropriate medical and supportive care, many individuals with the syndrome can lead active and fulfilling lives.

Epidemiology

Ter Haar syndrome is extremely rare, with only a few documented cases worldwide. Due to its rarity, the exact prevalence of the syndrome is unknown.

Ter Haar syndrome Resources
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