Preferred Label : Microcephaly - hypogammaglobulinaemia - abnormal immunity;
ICD-11 definition : 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.;
ICD-11 synonym : Say-Barber-Miller syndrome;
Origin ID : 720025180;
UMLS CUI : C2931267;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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.
