Say Barber Miller syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.

It has been reported in two brothers born to normal parents.

Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.

The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.

Visit the Orphanet disease page for more resources.

Last updated: 5/1/2006

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