What are the other Names for this Condition? (Also known as/Synonyms)

• Craniofrontal Dysplasia Associated with Fragile (fra(12) (q 13))

What is Cleft Lip Palate Dysmorphism, Kumar type? (Definition/Background Information)

• Cleft Lip Dysmorphism, Kumar type, is a heritable disorder, characterized by cleft lip/palate, and abnormalities in facial features, teeth, and digits’ development
• A fragile site on chromosome 12 (12q13) is responsible for this disorder, which is inherited in an autosomal dominant manner. Although both genders may be affected, the symptoms are more severe in females
• A broad forehead, wide nasal bridge, cleft lip and/or palate, webbed fingers/toes and abnormal teeth development are some symptoms of Cleft Lip Dysmorphism, Kumar type
• Surgical repair of facial, dental and digital abnormalities is the standard treatment for this genetic disorder
• The type and severity of symptoms may affect the prognosis of Cleft Lip Dysmorphism, Kumar type

Who gets Cleft Lip Palate Dysmorphism, Kumar type? (Age and Sex Distribution)

• Cleft Lip Dysmorphism, Kumar type is a rare genetic disorder. The exact prevalence of this condition is not known
• The abnormalities are apparent at birth
• Although both genders may be affected, the symptoms are severe in females
• The condition may be seen in individuals of all races and ethnic groups

What are the Risk Factors for Cleft Lip Palate Dysmorphism, Kumar type? (Predisposing Factors)

• Having a family history, particularly a close female family member with Cleft Lip Dysmorphism, Kumar type, may be a risk factor for this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s 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 Cleft Lip Palate Dysmorphism, Kumar type? (Etiology)

• Cleft Lip Dysmorphism, Kumar type, is caused by a fragile locus on chromosome 12 (fra(12) (q 13))
• 12q13 is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Cleft Lip Palate Dysmorphism, Kumar type?

The signs and symptoms of Cleft Lip Dysmorphism, Kumar type may vary in type and severity among the affected individuals. The signs and symptoms may include:

• Asymmetric head; broad forehead
• Short neck
• Widely-spaced eyes; down-slanting eyes
• Wide nasal bridge; nose with round tip
• Under-developed cheek bones
• Cleft lip and cleft palate
• Misaligned teeth
• Short and stubby fingers; broad toes
• Webbed fingers and toes
• Small feet
• Short stature

How is Cleft Lip Palate Dysmorphism, Kumar type Diagnosed?

Cleft Lip Dysmorphism, Kumar type, may be diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing for fragile (fra(12) (q 13)) site on chromosome 12

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 Cleft Lip Palate Dysmorphism, Kumar type?

The complications of Cleft Lip Dysmorphism, Kumar type may include:

• Dribbling 
• Decreased food intake 
• Inadequate weight gain
• Speech impediment
• Low self-esteem owing to appearance

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cleft Lip Palate Dysmorphism, Kumar type Treated?

The treatment for Cleft Lip Palate Dysmorphism, Kumar type, may involve:

• Surgical repair of cleft lip
• Surgical repair of cleft palate
• Surgical correction for webbed fingers and toes
• Correction of teeth misalignment by a dentist 
• Speech therapy, if deemed necessary

How can Cleft Lip Palate Dysmorphism, Kumar type be Prevented?

Currently, Cleft Lip Palate Dysmorphism, Kumar type, may not be preventable, since it is a genetic disorder.

• 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

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Cleft Lip Palate Dysmorphism, Kumar type? (Outcomes/Resolutions)

• The prognosis of Cleft Lip Palate Dysmorphism, Kumar type, may be dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Cleft Lip Palate Dysmorphism, Kumar type:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/