Macular coloboma-cleft palate-hallux valgus syndrome
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma cleft palate and hallux valgus. It has been described in a brother and sister. Pelvic limb and digital anomalies were also reported. Transmission is autosomal recessive.
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 April 2024
Newly diagnosed with
Macular coloboma-cleft palate-hallux valgus syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.