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

• Brachymorphism Onychodysplasia Dysphalangism Syndrome
• Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

What is BOD Syndrome? (Definition/Background Information)

• BOD Syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature
• The cause of the condition is not known. BOD Syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation
• Signs and symptoms of BOD Syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown

(Source: BOD Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets BOD Syndrome? (Age and Sex Distribution)

• BOD 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 BOD Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for BOD Syndrome
• A positive family history may be an important risk factor, if the syndrome is inherited

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 BOD Syndrome? (Etiology)

The cause of BOD Syndrome is not known.

• BOD Syndrome is thought to be inherited in an autosomal dominant fashion
• However, in many cases the condition occurs for the first time in a family due to a new mutation

(Source: BOD Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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 BOD Syndrome?

The signs and symptoms of BOD Syndrome may include:

• Abnormal facial shape
• Anonychia
• Congenital cystic adenomatoid malformation of the lung
• Nail dysplasia
• Short distal phalanx of the 5th finger
• Short middle phalanx of the 5th finger
• Wide nose

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

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

• Absent fingernail
• Absent toenail
• Brachydactyly    
• Delayed skeletal maturation
• Fingernail dysplasia
• Hypoplastic fifth fingernail
• Hypoplastic toenails
• Long philtrum
• Microcephaly
• Short distal phalanx of toe
• Toenail dysplasia
• Wide nasal bridge

Frequently present symptoms in 30-79% of the cases:

• Biparietal narrowing 
• Epicanthus
• Frontal bossing 
• High forehead
• Intrauterine growth retardation 
• Malar flattening 
• Pointed chin
• Prominent nose
• Strabismus
• Triangular face
• Wide mouth

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

• Abnormality of the mitral valve 
• Abnormality of the respiratory system
• Atrial septal defect
• Brachycephaly    
• Clinodactyly of the 5th finger      
• Coarse facial features
• Generalized hirsutism
• High anterior hairline 
• Inguinal hernia
• Intellectual disability, mild
• Symphalangism affecting the phalanges of the hand 
• Thick eyebrow 
• Umbilical hernia

(Source: BOD Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is BOD Syndrome Diagnosed?

BOD 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
• Differential diagnosis to exclude Coffin-Siris syndrome, a condition presenting similar 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 BOD Syndrome?

The complications of BOD Syndrome may include:

• Emotional stress due facial deformities
• Involvement of the heart and lungs
• Intellectual impairment

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

How is BOD Syndrome Treated?

There is no cure for BOD 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 BOD Syndrome be Prevented?

Currently, BOD 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 BOD Syndrome? (Outcomes/Resolutions)

• The prognosis of BOD 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 BOD Syndrome:

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

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