pterygium colli-intellectual disability-digital anomalies syndrome
MeSH: C535831ORPHA: 2988
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 pterygium colli-intellectual disability-digital anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Webbed neckBrachycephalyHypertelorismPtosisEpicanthus inversusUpslanted palpebral fissureIntellectual disabilityGeneralized hypotoniaHighly arched eyebrowEnlarged interphalangeal jointsProximal placement of thumbAbnormality of the epiphysis of the distal phalanx of the thumbBroad distal phalanx of fingerPlantar edemaPalmar edemaPosteriorly rotated ears
Classification & Codes
MeSH Code
C535831Orphanet Code
ORPHA:2988pterygium colli-intellectual disability-digital anomalies syndrome
| MeSH | C535831 |
| Orphanet | ORPHA:2988 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO