Orphanet: Trigonocephaly bifid nose acral anomalies syndrome
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Trigonocephaly-bifid nose-acral anomalies syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.

ORPHA:3368

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 275595
  • UMLS: C1848743
  • MeSH: -
  • GARD: 5126  5277
  • MedDRA: -
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