Gomez and López-Hernández syndrome
ORPHA: 1532
Overview
medical condition
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 Gomez and López-Hernández syndrome, sourced from HPO and Orphanet clinical annotations.
Thin vermilion borderHydrocephalusBrachycephalyTurricephalyMask-like faciesHypertelorismLow-set earsAnteverted naresVisual impairmentTelecanthusAtaxiaAbnormal cerebellum morphologyCerebellar vermis hypoplasiaAlopecia of scalpModerate intellectual disabilityAbnormal brainstem morphologyShort statureImpaired pain sensationCorneal opacityMidface retrusionCognitive impairmentToenail dysplasia
Classification & Codes
Orphanet Code
ORPHA:1532Gomez and López-Hernández syndrome
| Orphanet | ORPHA:1532 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO