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Features include very common findings: Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion, and Microcephaly and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Thick lower lip vermilion, Everted lower lip vermilion, Microcephaly |
Growth and development | 3 | Disproportionate tall stature, Short stature, Cachexia |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Joint hypermobility |
Brain and nerves | 1 | Intellectual disability |
Muscles | 1 |
Phenotype severity distribution: 19 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Fryns Smeets Thiry syndrome