Trigonocephaly-bifid nose-acral anomalies syndrome

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Trigonocephaly-bifid nose-acral anomalies syndrome?

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