cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
ORPHA: 436174
Overview
human disease
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-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthPrelingual sensorineural hearing impairmentSensorineural hearing impairmentProgressive sensorineural hearing impairmentCataractThick eyebrowDevelopmental cataractDecreased response to growth hormone stimulation testMotor delayHip dislocationShort statureAchalasiaScoliosisSkeletal dysplasiaSpondyloepiphyseal dysplasiaGenu valgumPeripheral neuropathyFasting hypoglycemiaSpinal canal stenosisThoracic kyphoscoliosisPeriarticular subcutaneous nodulesCervical spinal canal stenosisBilateral sensorineural hearing impairmentProminent forehead
Classification & Codes
Orphanet Code
ORPHA:436174cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
| Orphanet | ORPHA:436174 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO