Adducted Thumb Syndrome Recessive Form

Definition

Definition of Adducted Thumb Syndrome Recessive Form
Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease affecting multiple systems which causes malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian the first person to describe the condition. Christian-Andrews-Conneally-Muller syndrome is another term, named after the other authors (P. A. Andrews, P. M. Conneally and Jans Muller) of the original publication.

Pathology: The skull consists of five thin, curved, bony plates that intersect along lines called sutures. At birth, the bony plates of the skull are not fully joined along the sutures. This allows the baby's head and brain to increase in size and develop after birth. Typically a baby's brain and skull double in size in the first 6 months of life and again by age 2.1 After age 2, the sutures begin to close so that the bones can fuse together. The skull and brain continue to grow throughout early life but at a slower rate. Craniosynostosis is a rare condition in which the skull sutures close and the bony plates of the skull become fused too early in life. This leads in the baby having an abnormally shaped head. Craniosynostosis typically develops while the fetus is still in the mother's womb and often is evident at birth or soon after. It develops in about 1 in every 2,000 births.2 Having less room for the baby's brain to grow and develop can also lead to increased pressure on the brain. If untreated, the increased pressure can result to brain injury. This may cause developmental delays, blindness, seizures, and other problems. Fortunately, the majority of children with craniosynostosis do experience these problems. The effects of craniosynostosis depend on how many sutures are affected and whether the problem arises as part of a genetic disorder or other condition.

Symptoms

Symptoms of Adducted Thumb Syndrome Recessive Form
Consult with your doctor.

Causes

Causes of Adducted Thumb Syndrome Recessive Form
Consult with your doctor.

Diagnosis

Diagnosis of Adducted Thumb Syndrome Recessive Form
This syndrome is associated with microcephaly, arthrogryposis, and cleft palate and various craniofacial, respiratory, neurological, and limb abnormalities, including bone and joint defects of the upper limbs, adducted thumbs, camptodactyly, and talipes equinovarus or calcaneovalgus. Patients with the disease are considered mentally retarded, and most die in childhood. Patients often suffer from respiratory difficulties, such as pneumonia, and from seizures due to dysmyelination in the white matter. It has been hypothesized that the Moro reflex (startle reflex in infants) may be a tool in detecting the congenital clapsed thumb early in infancy. The thumb will normally extend as a result of this reflex.

Treatment

Treatment of Adducted Thumb Syndrome Recessive Form
Should surgery prove to be necessary, it is typically performed between the 4th and the 7th month after birth. The cranial bone is reshaped to allow uninhibited further growth of the head and a normal development of the brain and sensory organs.

Prognosis

Prognosis of Adducted Thumb Syndrome Recessive Form
Consult with your doctor.