blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA: 2728
Overview
syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability
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, Ohdo type, sourced from HPO and Orphanet clinical annotations.
CryptorchidismSmall scrotumProteinuriaMicrocephalyAbnormality of the outer earHearing impairmentRecurrent otitis mediaPtosisMicrophthalmiaBlepharophimosisAmblyopiaHypoplasia of teethWidely spaced teethMicrodontiaDelayed speech and language developmentAbnormal palmar dermatoglyphicsMild intellectual disabilityMotor delayIntrauterine growth retardationMicrotiaPostnatal growth retardationHeart murmurCleft palateAtrial septal defectMultiple bladder diverticulaNeonatal asphyxia
Classification & Codes
Orphanet Code
ORPHA:2728blepharophimosis-intellectual disability syndrome, Ohdo type
| Orphanet | ORPHA:2728 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO