Adducted thumb syndrome recessive form

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Definition

Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease that affects multiple systems which causes malformations of the palate, thumbs, and upper limbs.

Diagnosis

This syndrome is related to microcephaly, arthrogryposis, and cleft palate and various craniofacial, neurological, respiratory, and limb abnormalities, including bone and joint defects of the upper limbs, adducted thumbs, camptodactyly, and talipes equinovarus or calcaneovalgus. Patients affected with the disease are considered mentally retarded, and most die in childhood. Patients often undergo respiratory difficulties, such as pneumonia, and from seizures due to dysmyelination in the white matter. It has been suggested 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 because of this reflex.

Treatment

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.

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.

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