Frank–Ter Haar syndrome
Rare syndrome with bone, heart, and eye abnormalities.
Frank–Ter Haar syndrome (FTHS) is a rare disease affecting bone, heart, and eye development. Children born with the condition typically die at a very young age. It is also known as Ter Haar syndrome.
Quick Facts
- First described
- 1973
- Initial describer
- Yitzchak Frank
- Initial patient
- 18-month-old Bedouin girl
- Inheritance
- Autosomal recessive
- Associated gene
- Tks4
Facts from the source article.
Did You Know?
- The protein Tks4 is involved in the formation of podosomes, which allow cells to migrate.
- A mouse model lacking the Tks4 gene shows all symptoms of Frank–Ter Haar syndrome.
- Protruding simple ears and a prominent coccyx are regarded as important diagnostic signs.
History
The condition now known as Frank–Ter Haar syndrome was first described in 1973 by Yitzchak Frank and his team, who observed an 18-month-old Bedouin girl with enlarged corneas, skeletal issues, and delayed development. In 1982, Ben ter Haar reported three similar cases initially mistaken for Melnick–Needles syndrome. Over the next twenty years, more patients were identified, leading to recognition of this distinct disorder. It is set apart from related syndromes by its inheritance pattern and links to congenital glaucoma and heart disease.
More in Syndromes with Craniofacial Abnormalities
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