Hanhart Syndrome / Hypoglossia-Hypodactyly Syndrome synonyms

Hanhart Syndrome, also known as Hypoglossia-Hypodactyly Syndrome, is a rare genetic disorder characterized by the underdevelopment or absence of the tongue (hypoglossia) and the fingers or toes (hypodactyly). This condition is present at birth and affects both males and females. The exact cause of Hanhart Syndrome is not yet fully understood, but it is believed to be caused by genetic mutations.

Individuals with Hanhart Syndrome typically have a small, malformed tongue that may be attached to the floor of the mouth, making it difficult for them to speak, swallow, or eat properly. The severity of hypoglossia can vary, with some individuals having a partial tongue and others having a complete absence of the tongue. Hypodactyly, on the other hand, refers to the underdevelopment or absence of fingers or toes. Affected individuals may have fewer digits or completely fused digits.

The symptoms and severity of Hanhart Syndrome can vary widely among individuals. Some may only have mild speech and feeding difficulties, while others may experience more significant challenges. Additionally, other associated features may be present, such as cleft palate, hearing loss, or skeletal abnormalities.

Diagnosis of Hanhart Syndrome is typically based on clinical examination, medical history, and genetic testing. Although there is no cure for this syndrome, management focuses on addressing the specific symptoms and improving quality of life. This may involve speech therapy, feeding interventions, and surgical procedures to improve tongue mobility or correct other associated abnormalities.

It is important for individuals with Hanhart Syndrome to receive comprehensive care from a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, speech therapists, and surgeons. With appropriate support and interventions, individuals with Hanhart Syndrome can lead fulfilling lives and overcome many of the challenges associated with this condition.