Blepharophimosis-intellectual disability syndrome, MKB type
Synonyms: BMRS, MKB type | BMRS, Maat-Kievit-Brunner type | Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome
A rare X-linked syndromic intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech urogenital abnormalities including scrotal hypoplasia micro penis and cryptorchidism autistic behavior and facial dysmorphism. Most typical facial features are ptosis blepharophimosis a bulbous nasal tip a long philtrum and maxillar hypoplasia with full cheeks. Other variable features include microcephaly hearing loss dental anomalies and hyperextensible joints.
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
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Blepharophimosis-intellectual disability syndrome, MKB type?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.