Hanhart syndrome

A rare congenital disorder affecting limb and craniofacial development

Hanhart syndrome is a rare congenital disorder characterized by limb and craniofacial abnormalities. It is a type of oromandibular limb hypogenesis syndrome, which involves underdevelopment of the mouth, jaw, and limbs. The condition is named after the German physician Egon Hanhart, who first described it in the 1950s.

Presentation

Individuals with Hanhart syndrome typically present with a combination of micrognathia (small jaw), glossoptosis (downward displacement or retraction of the tongue), and limb defects. The limb defects can vary significantly in severity and may include hypoplasia or aplasia of the fingers, toes, hands, or feet. In some cases, individuals may have syndactyly (fusion of fingers or toes) or polydactyly (extra fingers or toes).

Etiology

The exact cause of Hanhart syndrome is not well understood. It is believed to be a genetic disorder, although the specific genetic mutations involved have not been definitively identified. Some cases have been associated with chromosomal abnormalities, but these are not consistent across all individuals with the syndrome.

Diagnosis

Diagnosis of Hanhart syndrome is primarily based on clinical examination and the identification of characteristic physical features. Prenatal diagnosis may be possible through ultrasound if limb and craniofacial abnormalities are detected. Genetic testing may be used to rule out other conditions with similar presentations.

Management

Management of Hanhart syndrome is typically supportive and symptomatic. Surgical interventions may be necessary to address significant limb deformities or craniofacial abnormalities. Speech therapy and occupational therapy can be beneficial in improving functional outcomes and quality of life. Multidisciplinary care involving pediatricians, geneticists, orthopedic surgeons, and other specialists is often required.

Prognosis

The prognosis for individuals with Hanhart syndrome varies depending on the severity of the abnormalities and the presence of any associated complications. Early intervention and comprehensive management can improve outcomes and help individuals achieve a better quality of life.

Related pages

• Oromandibular limb hypogenesis syndrome
• Micrognathia
• Glossoptosis
• Syndactyly
• Polydactyly