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Frank-Ter Haar syndrome

Synonym(s) Ter Haar syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Antenatal
  • Q87.8
  • C1855305
MeSH -
MedDRA -


Disease definition

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


Less than 30 cases have been reported worldwide.

Clinical description

Protruding ears, prominent coccyx bone and congenital heart defects are frequently present.

Genetic counseling

Autosomal recessive inheritance is suggested.

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