Loading...
Disclaimer: Informational only — not medical advice. AI hypotheses are not clinically validated. Medic Oath is for informational and educational purposes only — not medical advice. AI-generated hypotheses have not been clinically validated. Always consult a qualified healthcare professional. Privacy · Terms
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 a
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.