camptodactyly syndrome, Guadalajara type 3

MeSH: C567455ORPHA: 488434

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 camptodactyly syndrome, Guadalajara type 3, sourced from HPO and Orphanet clinical annotations.

RetrognathiaFacial asymmetryAbnormal pinna morphologyDepressed nasal tipBroad nasal tipWebbed neckShort neckTelecanthusThick eyebrowAbnormal rib morphologyAbnormal skull morphologyThickened cortex of long bonesOsteopeniaNumerous neviMild intellectual disabilityShort footDelayed skeletal maturationSpina bifida occultaDistal shortening of limbsBroad femoral neckBroad columellaSternocleidomastoid amyotrophyFlat faceWide nasal baseSmall handSymblepharonMicropenis

Classification & Codes

MeSH Code

C567455

Orphanet Code

ORPHA:488434
camptodactyly syndrome, Guadalajara type 3
MeSHC567455
OrphanetORPHA:488434
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
camptodactyly syndrome, Guadalajara type 3 | OrphanDrug