SPECC1L-related hypertelorism syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

SPECC1L-related hypertelorism syndrome

Synonyms: Brachycephalofrontonasal dysplasia | Teebi hypertelorism syndrome

A rare autosomal dominant malformation syndrome characterized by hypertelorism omphalocoele cleft lip ear pits uterine malformation (bicornuate uterus) and more variably by diaphragmatic hernia and congenital heart defects.

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 February 2024

Newly diagnosed with
SPECC1L-related hypertelorism 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

Clinical Trials

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