Nablus mask-like facial syndrome
MeSH: C536110ORPHA: 178303
Overview
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
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 Nablus mask-like facial syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismMask-like faciesLong philtrumLow-set earsAbnormal pinna morphologyWide nasal bridgeDepressed nasal ridgeTelecanthusBlepharophimosisHighly arched eyebrowUnderfolded helixAbnormal antihelix morphologyAbnormal hair patternSkin dimpleSparse eyebrowConspicuously happy dispositionLack of skin elasticityHypogonadismAbnormality of the dentitionMicrocephalyHypoplasia of the maxillaShort neckGlobal developmental delayLimitation of joint mobilitySandal gapWide intermamillary distanceCamptodactyly of fingerSubmucous cleft hard palateSparse eyelashesCraniosynostosisAbnormal nostril morphologyFinger syndactyly
Classification & Codes
MeSH Code
C536110Orphanet Code
ORPHA:178303Nablus mask-like facial syndrome
| MeSH | C536110 |
| Orphanet | ORPHA:178303 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO