autosomal recessive Kenny-Caffey syndrome

MeSH: C537021ORPHA: 93324

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 recessive Kenny-Caffey syndrome, sourced from HPO and Orphanet clinical annotations.

Hypocalcemic seizuresHypocalcemiaCongenital hypoparathyroidismMicrocephalyDelayed cranial suture closureFull cheeksHypertelorismCarious teethThin ribsGrowth delayIntrauterine growth retardationShort footDelayed skeletal maturationHypocalcemic tetanyDecreased skull ossificationCalvarial osteosclerosisCortical thickening of long bone diaphysesThin long bone diaphysesThin claviclesPostnatal growth retardationStenosis of the medullary cavity of the long bonesSmall hand

Classification & Codes

MeSH Code

C537021

Orphanet Code

ORPHA:93324
autosomal recessive Kenny-Caffey syndrome
MeSHC537021
OrphanetORPHA:93324
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO