autosomal dominant Kenny-Caffey syndrome
ORPHA: 93325
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 autosomal dominant Kenny-Caffey syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed cranial suture closureShort statureCortical thickening of long bone diaphysesStenosis of the medullary cavity of the long bonesHypertelorismHypermetropiaCarious teethPapilledemaGrowth delayIntrauterine growth retardationAnemiaBasal ganglia calcificationHypocalcemic seizuresDelayed skeletal maturationHyperphosphatemiaHypocalcemic tetanyDecreased skull ossificationCalvarial osteosclerosisPostnatal macrocephalyThin long bone diaphysesBilateral microphthalmosRetinal calcificationCongenital hypoparathyroidismDecreased testicular sizePostnatal growth retardationProminent foreheadAbnormal circulating follicle-stimulating hormone concentrationDevelopmental cataractAbnormally high-pitched voicePersistence of primary teeth
Classification & Codes
Orphanet Code
ORPHA:93325autosomal dominant Kenny-Caffey syndrome
| Orphanet | ORPHA:93325 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO