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Start free with EleplanBlepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA:2728Malformation syndrome
Also called BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type · Ohdo syndrome · Ohdo-Madokoro-Sonoda syndrome
What it is
A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
22- Abnormality of the outer ear
- Abnormal palmar dermatoglyphics
- AmblyopiaDiagnostic criterion
- BlepharophimosisDiagnostic criterion
- Cryptorchidism
- Delayed speech and language development
- Hearing impairment
- Heart murmur
- Hypoplasia of teeth
- Intellectual disability, mildDiagnostic criterion
- Intrauterine growth retardation
- Microcephaly
- Microdontia
- Microphthalmia
- Microtia
- Motor delay
- Postnatal growth retardation
- Proteinuria
- Ptosis
- Recurrent otitis media
- Small scrotum
- Widely spaced teeth
Common30–79%
4- Atrial septal defectDiagnostic criterion
- Cleft palate
- Multiple bladder diverticula
- Neonatal asphyxia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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