Adducted thumb syndrome recessive form is a

rare disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financi ...

affecting multiple systems causing malformations of the

palate The palate () is the roof of the mouth in humans and other mammals. It separates the oral cavity from the nasal cavity. A similar structure is found in crocodilians, but in most other tetrapods, the oral and nasal cavities are not truly sep ...

, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

, caused by mutation in the

CHST14 Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the ''CHST14'' gene. Gene ''CHST14,'' a protein-coding gene, encodes for the enzyme carbohydrate sulfotransferase 14 (CHST14)/ dermatan 4-O-sulfotransferase (D4ST1). In ...

(carbohydrate sulfotransferase 14) gene.

Signs and symptoms

This syndrome is characterised by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs,

arachnodactyly Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...

club feet Clubfoot is a congenital or acquired defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of ca ...

, joint instability,

facial cleft A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare ...

ing and bleeding disorders, as well as 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.

Cause

Diagnosis

The syndrome is associated with

microcephaly Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it m ...

arthrogryposis Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (', 'joint'; ', late Latin form of late Greek ', 'hooking'). Children born with one ...

and

cleft palate A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The ...

and various craniofacial, respiratory, neurological and limb abnormalities, including

bone A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, ...

and

joint A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw- ...

defects of the upper limbs, adducted thumbs,

camptodactyly Camptodactyly is a medical condition that causes one or more Digit (anatomy), digits (fingers or toes) to be permanently bent. It involves fixed Human anatomical terms#Types of movement, flexion deformity of the proximal interphalangeal articulat ...

and

talipes equinovarus Clubfoot is a congenital or acquired defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of ca ...

or calcaneovalgus. It is characterized by craniosynostosis, and myopathy in association with congenital generalized

hypertrichosis Hypertrichosis (sometimes known as werewolf syndrome) is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, w ...

. Patients with the disease are considered

intellectually disabled Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

. Most die in childhood. Patients often have respiratory difficulties such as

pneumonia Pneumonia is an Inflammation, inflammatory condition of the lung primarily affecting the small air sacs known as Pulmonary alveolus, alveoli. Symptoms typically include some combination of Cough#Classification, productive or dry cough, ches ...

, and from

seizures A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, o ...

due to dysmyelination in the brain's

white matter White matter refers to areas of the central nervous system that are mainly made up of myelinated axons, also called Nerve tract, tracts. Long thought to be passive tissue, white matter affects learning and brain functions, modulating the distr ...

. It has been hypothesized that the

Moro reflex The Moro reflex is an infantile reflex that develops between 28 and 32 weeks of gestation and disappears at 3–6 months of age. It is a response to a sudden loss of support and involves three distinct components: # spreading out the arms ( abd ...

(startle reflex in infants) may be a tool in detecting the congenital clasped thumb early in infancy. The thumb normally extends as a result of this reflex.

Treatment

References

External links