Adducted thumb syndrome recessive form
Synonyms
2
Overview
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. It is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of the thumb and feet, a typical facial appearance, and normal cognitive development. This is caused by mutation in the CHST14 (CARBOHYDRATE SULFOTRANSFERASE 14) gene.
Symptoms
- Small head
- Premature fusion of skull bones
- Arthryogryposis
- Cleft palate
- Craniofacial abnormalities
- Respiratory problems
- Neurological problems
- Limb abnormalities
- Bone defects in arms
- Joint defects in arms
- Camptodactyly
- Adducted thumbs
- Clubfoot
- Mental retardation
- Death usually during childhood
- Pneumonia
- Seizures
- Brain demyleination
- Swallowing difficulty
- Reduced reflexes
- Reduced muscle tone
- Laryngeal abnormality
- Sunken chest
- Mouth held open
- High arched palate
- Limited elbow extension
- Limited wrist extension
- Limited knee extension
- Hypertrichosis
- Increased body hair
- Slight build
- Thin and translucent skin
- Severely adducted thumbs
- Arachnodactyly (a condition in which the fingers are long and slender and curved. It appears as spider legs)
- Clubfeet
- Joint instability
- Facial clefting
- Bleeding disorders
- Heart, Kidney, or Intestinal defects
Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal
Diagnosis
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.