MASS syndrome
ICD-10: Q87.5MeSH: C536030ORPHA: 85194
Overview
Connective tissue disorder
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 MASS syndrome, sourced from HPO and Orphanet clinical annotations.
Thin vermilion borderFacial hypotoniaHypertelorismLong philtrumLow-set earsThickened helicesWebbed neckShort neckCataractAbnormal eyebrow morphologyRetinal detachmentMyopiaMicrophthalmiaVisual lossNystagmusPlatyspondylyOsteoporosisHyperextensible skinIntellectual disabilityVentricular septal defectPes planusLow posterior hairlineThoracic kyphosisDisproportionate short-trunk short statureShort staturePreauricular pitAbnormal intervertebral disk morphologyIris hypopigmentationAplasia/Hypoplasia of the lensAbnormal antihelix morphologyJoint hypermobility
Classification & Codes
ICD-10 Code
Q87.5MeSH Code
C536030Orphanet Code
ORPHA:85194MASS syndrome
| ICD-10 | Q87.5 |
| MeSH | C536030 |
| Orphanet | ORPHA:85194 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO