camptodactyly syndrome, Guadalajara type 1
MeSH: C537970ORPHA: 1327
Overview
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies
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 1, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationToe syndactylyHallux valgusShort toeSpina bifidaDownturned corners of mouthDelayed skeletal maturationCubitus valgusShort noseScapular wingingShort statureDepressed nasal bridgeUnderdeveloped supraorbital ridgesLong faceBlepharophimosisSynophrysSacral dimpleHighly arched eyebrowShort distal phalanx of fingerPosteriorly rotated earsTelecanthusDental malocclusionPectus excavatumPectus carinatumAbnormal form of the vertebral bodiesAbnormality of dental eruptionMicrotiaAttached earlobeOpen biteMidface retrusionFlat faceCamptodactyly of fingerNarrow mouthHigh palateBrachycephalyMicrocephalyNarrow faceEpicanthusMandibular prognathiaAnteverted naresMicrocorneaNarrow chestMelanocytic nevusBrachydactylyIntellectual disabilitySeizureGlobal developmental delay
Classification & Codes
MeSH Code
C537970Orphanet Code
ORPHA:1327camptodactyly syndrome, Guadalajara type 1
| MeSH | C537970 |
| Orphanet | ORPHA:1327 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO