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Say-Barber-Miller syndrome

Disease definition

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

ORPHA:3132

Classification level: Disorder
  • Synonym(s):
    • Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 251240
  • UMLS: C2931267
  • MeSH: C536618
  • GARD: 239
  • MedDRA: -

Summary

Epidemiology

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

Clinical description

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

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

- Last update: May 2006

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.