Okamoto syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability generalized hypotonia growth failure hydronephrosis cardiac anomalies and dysmorphic craniofacial features (such as microcephaly hypertrichosis synophrys long eyelashes epicanthus flat nasal bridge short upturned nose long philtrum low-set ears open-mouth appearance full lower lip cleft palate and webbed neck). Thin corpus callosum tethered spinal cord intestinal malrotation anal stenosis and uterus didelphys have also been reported.

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 July 2024

Newly diagnosed with
Okamoto 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.