pycnodysostosis
MeSH: D058631ORPHA: 763
Overview
osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges
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 pycnodysostosis, sourced from HPO and Orphanet clinical annotations.
BrachydactylyFrontal bossingPersistent open anterior fontanelleObtuse angle of mandibleDelayed pneumatization of the mastoid processDisproportionate short-limb short statureOsteolytic defects of the distal phalanges of the handIncreased bone mineral densityDecreased circulating serum insulin-like growth factor 1 concentrationAbnormality of the dentitionDelayed cranial suture closureHypoplasia of the maxillaMicrognathiaConvex nasal ridgeProminent noseProptosisBlue scleraeDecreased response to growth hormone stimulation testIntrauterine growth retardationAbnormal nail morphologyShort footIncreased susceptibility to fracturesObstructive sleep apneaGeneralized osteosclerosisMild conductive hearing impairmentShort fingerMidface retrusionChronic painSmall handHigh palateHypodontiaCarious teethDelayed eruption of primary teethDental malocclusionDelayed eruption of permanent teethAbnormal clavicle morphologyLaryngomalaciaRidged nailNail dysplasiaWormian bonesScoliosisHypoplastic iliac wingMesomeliaSpondylolisthesisSpondylolysisEnamel hypoplasiaPersistence of primary teethRhizomeliaStridorAcromeliaMild global developmental delayOverweightLower limb asymmetryStrabismusAbnormality of refractionAbnormality of the nervous systemNarrow chestHepatosplenomegalyChiari malformationUpper motor neuron dysfunctionIncreased intracranial pressureKyphosisHyperlordosisCoronal craniosynostosisCerebral dysmyelinationJoint hypermobility
Classification & Codes
MeSH Code
D058631Orphanet Code
ORPHA:763pycnodysostosis
| MeSH | D058631 |
| Orphanet | ORPHA:763 |
| Treatments | 0 drug(s) |
| Symptoms on record | 66 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO