What are the other Names for this Condition? (Also known as/Synonyms)

• Microcephaly hypogammaglobulinemia abnormal immunity
• Microcephaly with chemotactic defect and transient hypogammaglobulinemia

What is Say Barber Miller Syndrome? (Definition/Background Information)

• Say-Barber-Miller Syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation
• 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 gamma globulins and defective chemotaxis were detected in both boys during infancy
• The hypogammaglobulinemia improved with age but the defective chemotaxis and recurrent infections persisted

(Source: Say-Barber-Miller syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Say Barber Miller Syndrome? (Age and Sex Distribution)

• Say-Barber-Miller Syndrome is a rare, congenital disorder. The presentation of symptoms may occur at birth or infancy
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected
• The condition was first reported in two brothers born to normal parents, and since then, less than ten cases have been reported 

What are the Risk Factors for Say Barber Miller Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Say-Barber-Miller Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for Say-Barber-Miller Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Say Barber Miller Syndrome? (Etiology)

• The exact cause of Say-Barber-Miller Syndrome is not known at the present time
• The pattern of inheritance of Say-Barber-Miller Syndrome may either be autosomal recessive or X-linked

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected)

X-linked inheritance: In this type of inheritance, the causative gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons

What are the Signs and Symptoms of Say Barber Miller Syndrome?

The signs and symptoms of Say-Barber-Miller Syndrome may include the following:

• Convex nasal ridge
• Flexion contracture (inability to completely straighten the knee)
• Hypogonadism
• Macrotia
• Microcephaly
• Micrognathia
• Patellar hypoplasia
• Protruding ear
• Recurrent infections
• Scoliosis
• Sloping forehead
• Transient hypogammaglobulinemia of infancy

(Source: Say-Barber-Miller syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Say Barber Miller Syndrome Diagnosed?

Say-Barber-Miller Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Say Barber Miller Syndrome?

The complications of Say-Barber-Miller Syndrome may include the following:

• Movement difficulties, due to under-developed kneecaps and flexion contractures
• Lung damage due to scoliosis: The rib cage might press against the lungs and affects its normal function, causing breathing difficulties and may also lead to lung infections (pneumonia)
• Heart damage due to scoliosis: As a result of Scoliosis, the rib cages presses against the chest causing damage to the heart and its malfunction
• Back problems as a result of scoliosos: Severe back pain is an end result of Scoliosis
• Appearance or self-image issues, due to prominent unevenness of the ribs hips and shoulders. This may cause deep and long-term emotional and psychological stress, in both children and adults; affecting their performance at school, college, work, and at social life
• Possible intellectual deficiency due to microcephaly

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Say Barber Miller Syndrome Treated?

There is no cure for Say-Barber-Miller Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Say Barber Miller Syndrome be Prevented?

• Say-Barber-Miller Syndrome may not be preventable, since it is a genetic disorder
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Say Barber Miller Syndrome? (Outcomes/Resolutions)

• The prognosis of Say-Barber-Miller Syndrome may depend on the type and severity of symptoms in an affected individual
• In those affected, hypogammaglobulinemia may improve with age, but the defective chemotaxis and recurrent infections may persist

(Source: Say-Barber-Miller syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Say Barber Miller Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/