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Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
Features include: Microcephaly, Sloping forehead, Sideways curvature of the spine (scoliosis), and Flexion contracture and 8 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Microcephaly |
Bones and joints |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Say-Barber-Miller syndrome
1
Sideways curvature of the spine (scoliosis) |
Muscles | 1 | Flexion contracture |
Blood and immune system | 1 | Recurrent infections |
Hormones | 1 | Hypogonadism |