cataract-intellectual disability-hypogonadism syndrome
MeSH: C536028ORPHA: 1387
Overview
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism
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 cataract-intellectual disability-hypogonadism syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismFurrowed tongueEverted lower lip vermilionMicrocephalyMalar flatteningShort philtrumCataractIntellectual disabilityLow posterior hairlineShort statureAbnormal dermatoglyphicsPrematurely aged appearanceFeeding difficulties in infancyMidface retrusionCryptorchidismHigh palateBrachycephalyMicrognathiaHypotelorismTooth malpositionAbnormality of the handHyperlordosisDepressed nasal bridgeAbnormal toenail morphologyUlnar deviation of fingerAbnormal distal phalanx morphology of fingerCerebral cortical atrophyScoliosisAbnormal antihelix morphologyPosteriorly rotated ears
Classification & Codes
MeSH Code
C536028Orphanet Code
ORPHA:1387cataract-intellectual disability-hypogonadism syndrome
| MeSH | C536028 |
| Orphanet | ORPHA:1387 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO