nasopalpebral lipoma-coloboma syndrome
MeSH: C538338ORPHA: 2399
Overview
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus
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 nasopalpebral lipoma-coloboma syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal eyelash morphologyCataractMicrophthalmiaExotropiaRecurrent upper respiratory tract infectionsLacrimal punctal atresiaCorneal opacityTelecanthusColobomaMultiple lipomasDolichocephalyHypertelorismHypoplasia of the maxillaBroad foreheadWidow's peakLow-set earsDepressed nasal tipWide noseSevere postnatal growth retardationEpiphoraHamartoma of the orbital regionConjunctival hyperemiaCutaneous hamartomaLipomas of eyelidsSparse eyebrowCupped earClinodactyly of the 5th fingerBilateral microphthalmosAbnormal external ear cartilage morphology
Classification & Codes
MeSH Code
C538338Orphanet Code
ORPHA:2399nasopalpebral lipoma-coloboma syndrome
| MeSH | C538338 |
| Orphanet | ORPHA:2399 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO