Blepharophimosis-intellectual disability syndrome, Verloes type

Get in touch with RARE Concierge.

Contact RARE Concierge

Blepharophimosis-intellectual disability syndrome, Verloes type

Synonyms: BMRS type V | BMRS, Verloes type | Blepharophimosis-intellectual disability syndrome type V

Blepharophimosis-intellectual disability syndrome Verloes type is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly severe epilepsy with hypsarrhythmia adducted thumbs abnormal genitalia and normal thyroid function. Hypotonia moderate to severe psychomotor delay and characteristic facial dysmorphism (including round face with prominent cheeks blepharophimosis large bulbous nose with wide alae nasi posteriorly rotated ears with dysplastic conchae narrow mouth cleft palate and mild micrognathia) are additional characteristic features.

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 Data version December 2023

Newly diagnosed with
Blepharophimosis-intellectual disability syndrome, Verloes type?

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

Clinical Trials

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