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Trigonocephaly - bifid nose - acral anomalies

Orpha number ORPHA3368
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This 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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