Cole-Carpenter syndrome

Cole-Carpenter syndrome
Autosomal recessive pattern is the inheritance manner of this condition
Specialty	Medical genetics

Cole-Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition effects less than 10 people world wide. ^[1] It is characterised by dysmorphic features and a tendency to fractures.

Signs and symptoms[]

This condition is usually diagnosed in infancy.

Features of this condition include^{[citation needed]}

• Short trunk
• Poor growth
• Hydrocephalus
• Multiple fractures
• Craniofacial abnormalities
  • Multisutural craniosynostosis
  • Ocular proptosis
  • Marked frontal bossing
  • Midface hypoplasia
  • Micrognathia

Genetics[]

There are three forms of this syndrome.

Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25).^[2]

Type 2 have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26).^[3]

A third type has been described with a mutation in the cartilage associated protein (CRTAP) located on the short arm of chromosome 3 (3p22.3).^[4]

Clinically these forms are very similar and are best differentiated by gene sequencing.

The third patient (first female) diagnosed with this condition, gene sequencing shows no abnormalities.

Pathogensis[]

Protein disulfide-isomerase is involved in the hydroxylation of proline residues in preprocollagen. Protein transport protein Sec24D is a protein involved in vesicle transport. How mutations in the gene cause disease is not yet clear. Cartilage associated protein is involved in post translation modifications of collagen.^{[citation needed]}

Diagnosis[]

The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the P4HB, SEC24D and CRTAP genes.^{[citation needed]}

Differential diagnosis[]

• Pfeiffer syndrome
• Osteogenesis imperfecta
• Osteoglophonic dwarfism

Treatment[]

There is no specific treatment for this condition currently known and management of its various features is the norm.^{[citation needed]}

History[]

This condition was first described in 1987.^[1]

References[]