Hanhart syndrome

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Hanhart Syndrome

Hanhart syndrome (pronunciation: /ˈhɑːnhɑːrt/), also known as Hypoglossia-Hypodactylia syndrome, is a rare congenital disorder characterized by various developmental anomalies. The etymology of the term is derived from the name of the Swiss pediatrician, Rudolf Hanhart, who first described the condition in 1950.

Definition

Hanhart syndrome is a rare disorder that primarily affects the development of the face and limbs. The most common features include underdevelopment (hypoplasia) of the tongue (hypoglossia), and the absence (aplasia) or underdevelopment of the fingers and toes (hypodactylia).

Symptoms

The symptoms of Hanhart syndrome can vary greatly among affected individuals. The most common symptoms include:

  • Hypoglossia: Underdevelopment of the tongue, which can affect speech and swallowing.
  • Hypodactylia: Absence or underdevelopment of the fingers and toes.
  • Micrognathia: A smaller than normal jaw, which can affect feeding and breathing.
  • Limb abnormalities: Including missing or underdeveloped fingers or toes.

Causes

The exact cause of Hanhart syndrome is currently unknown. However, it is believed to occur as a result of a combination of genetic and environmental factors during early embryonic development.

Treatment

Treatment for Hanhart syndrome is symptomatic and supportive. This may include surgical correction of limb and facial abnormalities, speech therapy for those with hypoglossia, and other interventions as needed.

See Also

References


External links

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