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

• Blepharophimosis with Ptosis, Syndactyly, and Short Stature
• Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature
• Frydman Cohen Karmon Syndrome

What is Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome? (Definition/Background Information)

• Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows
• It has been described in six members of three related families. Transmission is autosomal recessive

(Source: Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome? (Age and Sex Distribution)

• Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is a rare, congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is an inherited condition
• Currently, no other risk factors have been clearly identified for the syndrome

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 Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome? (Etiology)

• The exact cause of development of Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is presently unknown
• It is reportedly a genetic disorder that is inherited in an autosomal recessive manner

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 Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome?

The signs and symptoms of Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome may include:

• Abnormality of the foot
• Cutaneous finger syndactyly
• Frontalis muscle weakness
• Weak extraocular muscles
• Wide nasal bridge

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of the cranial nerves
• Blepharophimosis
• Esotropia
• Highly arched eyebrow
• Ptosis
• Synophrys
• Thick eyebrow

Occasionally present symptoms in 5-29% of the cases:

• Anosmia 
• Hypertelorism 
• Intellectual disability, borderline
• Thick lower lip vermilion

(Source: Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome Diagnosed?

Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is 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

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 Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome?

The complications of Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome may include:

• Intellectual impairment (in some cases)
• Visual impairment

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

How is Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome Treated?

There is no cure for Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome be Prevented?

Currently, Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome 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 Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome? (Outcomes/Resolutions)

• The prognosis of Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome is 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 Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome:

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

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