Trigonocephaly-bifid nose-acral anomalies syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 http://www.orphadata.org. Data version June 2024

Newly diagnosed with
Trigonocephaly-bifid nose-acral anomalies syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.