Say Barber Miller syndrome
Other Names: Microcephaly hypogammaglobulinemia abnormal immunity; Microcephaly with chemotactic defect and transient hypogammaglobulinemia
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
Epidemiology[edit | edit source]
It has been reported in two brothers born to normal parents.
Signs and symptoms[edit | edit source]
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.
Prognosis[edit | edit source]
The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.
NIH genetic and rare disease info[edit source]
Say Barber Miller syndrome is a rare disease.
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