Frank–Ter Haar syndrome

A rare genetic disorder

Frank–Ter Haar syndrome is a rare genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities, and cardiovascular defects. It is inherited in an autosomal recessive pattern and is associated with mutations in the SH3PXD2B gene.

Presentation

Individuals with Frank–Ter Haar syndrome typically present with a range of clinical features. These include:

• Craniofacial abnormalities: Affected individuals often have a prominent forehead, widely spaced eyes (hypertelorism), and a broad nasal bridge. The fontanelles may remain open longer than usual.
• Skeletal abnormalities: These may include brachydactyly (short fingers and toes), kyphosis (curvature of the spine), and other bone malformations.
• Cardiovascular defects: Congenital heart defects are common, including patent ductus arteriosus and other structural heart anomalies.
• Ocular abnormalities: Some individuals may have glaucoma, cataracts, or other eye issues.
• Developmental delay: There may be delays in reaching developmental milestones and intellectual disability.

Genetics

Autosomal recessive inheritance pattern

Frank–Ter Haar syndrome is caused by mutations in the SH3PXD2B gene, which is located on chromosome 5. This gene is involved in the development of the cytoskeleton, which is crucial for cell shape and movement. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Diagnosis

Diagnosis of Frank–Ter Haar syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic physical features and skeletal abnormalities can lead to suspicion of the disorder, which can be confirmed by identifying mutations in the SH3PXD2B gene through genetic testing.

Management

There is no cure for Frank–Ter Haar syndrome, and treatment is focused on managing symptoms and improving quality of life. This may involve:

• Surgical interventions: To correct skeletal deformities or heart defects.
• Vision care: Regular eye examinations and treatment for ocular issues such as glaucoma.
• Developmental support: Early intervention programs and special education services to support developmental delays.

Prognosis

The prognosis for individuals with Frank–Ter Haar syndrome varies depending on the severity of symptoms and the presence of life-threatening complications such as severe heart defects. With appropriate medical care and support, individuals can lead improved lives, although they may face significant challenges.

Related pages

• Genetic disorder
• Autosomal recessive
• Craniofacial abnormalities
• Skeletal dysplasia