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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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SPECC1L-related hypertelorism syndrome?
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