blepharophimosis-intellectual disability syndrome, MKB type
ORPHA: 293707
Overview
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with blepharophimosis-intellectual disability syndrome, MKB type, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresTriangular faceBulbous noseProminent noseBlepharophimosisIntellectual disabilityFloppy infantThick nasal alae
Classification & Codes
Orphanet Code
ORPHA:293707blepharophimosis-intellectual disability syndrome, MKB type
| Orphanet | ORPHA:293707 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO