Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital).
Cause
Mutations in seven different genes, ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCE1, and SOX11 have been found to cause CSS.
Mutations in DPF2 have also recently been described in individuals with a “Coffin-Siris like” phenotype.
The ARID– and SMARC– genes linked to CSS provide the instructions to make several different protein complexes that are known as BRG-1 associated factor (BAF) complex in humans.
All individuals carry 4-5 abnormal genes. Parents who are related by blood (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Parents of some individuals with CSS have been closely related by blood.
Researchers believe the disease can be transmitted genetically as an autosomal dominant trait but most cases appear to be the result of a new mutation.
Family history autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting this condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Thick eyebrows and eyelashes or excess hair growth in unusual places such as the back (hypertrichosis)?
Sparse scalp hair?
Difficult to concentrate / difficulty in concentrating/memory problems and/or learning difficulties?
Sensitivity to every day noise and/or ringing noise within and/or difficulty hearing (click one’s finger and see if baby/young child responds)?
Drooping of the upper eyelid (ptosis), clouding of the lens of the eye (cataracts), and misalignment of the eyes (strabismus)?
Feeding difficulties?
Regular and reoccurring chest infections?
Affected infants and children may have short fifth fingers (‘pinkies’) and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes?
Dislocation of the inner forearm bone (radius) at the elbow?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Complications /Information to beware of/General tips:
Dandy-Walker malformation -This condition is characterized by cystic malformation and expansion of one of the cavities in the brain (fourth ventricle).
It is usually associated with an abnormal accumulation of cerebrospinal fluid (CSF) in the skull (hydrocephalus), resulting in increased fluid pressure, a rapid increase in head size, abnormal prominence of the back region of the head (occiput), and/or other associated findings.
Some individuals with CSS may also have partial or complete absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum) and fewer folds in their brain (gyral simplification).
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Detailed Information
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