Human HOXA1 Syndromes

Alternate names

Navajo brainstem syndrome; Athabaskan Brainstem Dysgenesis Syndrome; ABDS; Bosley Salih Alorainy syndrome; BSAS; Athabaskan Brainstem Dysgenesis

Definition

Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system.

Epidemiology

• The exact number of people with Human HOXA1 syndromes is unknown.
• Only a small number of people with these conditions have been reported in the literature.
• One estimate suggested that about 1 in 1000 to 1 in 3000 people in the Native American population are born with Human HOXA1 syndromes.

Cause

Human HOXA1 syndromes are caused by genetic changes (DNA variants) in the HOXA1 gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

• Human HOXA1 syndromes are inherited in an autosomal recessive pattern.
• All individuals inherit two copies of each gene.
• Autosomal means the gene is found on one of the numbered chromosomes found in both sexes.
• Recessive means that both copies of the gene must be altered to have the condition.
• People with autosomal recessive conditions inherit one altered gene from each of their parents.
• The parents, who each have one gene alteration, are known as carriers.
• Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected).
• When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Signs and symptoms

Symptoms may include:

• Horizontal eye movement disorder
• Profound deafness
• Inner ear abnormalities
• Blood vessel defects or abnormalities involving blood flow to and from the heart
• Breathing abnormalities
• Facial weakness or asymmetry
• The symptoms of Human HOXA1 syndromes are present in infancy.
• Some people with this condition have been reported to have intellectual and motor delays, and autistic-like behavior.
• Because this condition is so rare, not much is understood about how the symptoms change over time.

Diagnosis

Human HOXA1 syndromes are diagnosed based on a clinical examination, the symptoms, and confirmed by genetic testing.

Treatment

Treatment for Human HOXA1 syndromes is based on managing the symptoms. Some children may require breathing support, especially while sleeping. Some of the specialists that may be involved in the care of someone with a Human HOXA1 syndrome include:

• Pediatricians
• Surgeons
• Cardiologists (heart specialists)
• Pulmonologists (lung and breathing specialists)
• Dental specialists
• Speech pathologists
• Audiologists (specialists who assess and treat hearing problems)
• Ophthalmologists (eye specialists)
• Developmental and behavioral specialists

NIH genetic and rare disease info

• NIH info on Human HOXA1 Syndromes

Human HOXA1 Syndromes is a rare disease.

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