What are the other Names for this Condition? (Also known as/Synonyms)
- Craniofacial Dysostosis - Genital, Dental, and Cardiac Anomalies
- Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies
- GCM Syndrome
What is Gorlin Chaudhry Moss Syndrome? (Definition/Background Information)
- Gorlin Chaudhry Moss syndrome is an extremely infrequent congenital condition that may be manifest in an autosomal recessive manner
- Typically, in this condition, due to an early closure between the bones in the skull, abnormalities of the facial and cranial structures result
- Excessive hair growth, small eyes, and an irregular opening in the heart, are other main features that characterize this condition
- There is very little medical information available on Gorlin Chaudhry Moss syndrome, and hence, there are no established diagnostic procedures or treatment methods for this condition
- The treatment provided is symptomatic with correction of eye, ear, or teeth defects. Also, in case of heart abnormalities, such as patent ductus arteriosus, a surgical correction of the defect may be undertaken
Who gets Gorlin Chaudhry Moss Syndrome? (Age and Sex Distribution)
- Gorlin Chaudhry Moss Syndrome condition is extremely rare; only 7 cases (all female) have been documented in the world
- It is thought that the condition is inherited by the children, if both parents are carriers of the mutation in their DNA; there is a 25% chance of their offspring being affected in such cases
What are the Risk Factors for Gorlin Chaudhry Moss Syndrome? (Predisposing Factors)
- The only risk factor associated with Gorlin Chaudhry Moss Syndrome is a positive family history
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Gorlin Chaudhry Moss Syndrome? (Etiology)
- The exact cause of Gorlin Chaudhry Moss Syndrome remains unknown
- It is thought that the condition is an inherited genetic disorder, which is inherited in an autosomal recessive pattern
Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
What are the Signs and Symptoms of Gorlin Chaudhry Moss Syndrome?
Signs and Symptoms of Gorlin Chaudhry Moss Syndrome include:
- Premature closing of bones in the skull
- Failure to open and/or close the eyes
- Disfigured or missing teeth
- Widening of skull
- Mild retardation
- Hearing loss
- Involuntary eye movements (typically in horizontal plane)
- Excess hair growth
- Wrinkles and/or tiny holes in upper eyelids
- Inefficient blood flow through the heart
- Short fingers and/or toes
- Females may show underdeveloped genitalia
How is Gorlin Chaudhry Moss Syndrome Diagnosed?
- Gorlin Chaudhry Moss syndrome is a very rare condition and as yet there are no specific diagnostic techniques other than ruling out conditions that show similar signs and symptoms
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Gorlin Chaudhry Moss Syndrome?
Complications associated with Gorlin Chaudhry Moss syndrome could include:
- Astigmatism - inability to focus eye
- Farsightedness - difficulty seeing objects up close
- Ductus arteriosus - hole in one’s heart that does not allow blood to flow properly
How is Gorlin Chaudhry Moss Syndrome Treated?
Due to the rarity of Gorlin Chaudhry Moss Syndrome, there is no known cure. The goals of treatment are to eliminate symptoms. The treatment options include may include:
- Use of corrective lenses for eye-related defects
- Speech therapy
- Use of hearing aids
- Surgery to correct heart abnormalities
- Dentures to manage teeth-related defects
How can Gorlin Chaudhry Moss Syndrome be Prevented?
- Currently, there are no specific methods or guidelines to prevent Gorlin Chaudhry Moss syndrome genetic condition
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
What is the Prognosis of Gorlin Chaudhry Moss Syndrome? (Outcomes/Resolutions)
- There is no cure for Gorlin Chaudhry Moss Syndrome
- The quality of life can be improved through close monitoring of the condition and by addressing the signs and symptoms appropriately
Additional and Relevant Useful Information for Gorlin Chaudhry Moss Syndrome:
There are voluntary organizations and support groups that provide help and understanding to the individuals, families and friends of the Gorlin Chaudhry Moss Syndrome affected.