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Trigonocephaly-bifid nose-acral anomalies syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
  • Q87.0
MeSH -
MedDRA -


Disease definition

Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.


It has been described in a brother and his sister born to consanguineous parents.

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