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

• GHDD (Ghosal Hematodiaphyseal Dysplasia Syndrome)
• Ghosal Hematodiaphyseal Dysplasia
• Ghosal Syndrome

What is Ghosal Hematodiaphyseal Dysplasia Syndrome? (Definition/Background Information)

• Ghosal Hematodiaphyseal Dysplasia Syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia
• The exact prevalence is unknown. Ghosal Hematodiaphyseal Dysplasia Syndrome has been reported in unrelated families of Indian and Middle East origin
• Ghosal Hematodiaphyseal Dysplasia Syndrome is transmitted as an autosomal recessive trait

(Source: Ghosal Hematodiaphyseal Dysplasia Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Ghosal Hematodiaphyseal Dysplasia Syndrome? (Age and Sex Distribution)

• Ghosal Hematodiaphyseal Dysplasia Syndrome is a rare congenital disorder. The exact prevalence of this disorder is not known
• The presentation of symptoms may occur in childhood
• Both males and females may be affected
• Although individuals of all racial and ethnic groups may be affected, the condition is more often reported in Indian, Pakistani, and Middle Eastern populations

What are the Risk Factors for Ghosal Hematodiaphyseal Dysplasia Syndrome? (Predisposing Factors)

The risk factors for Ghosal Hematodiaphyseal Dysplasia Syndrome include:

• A family history
• Being of Indian, Pakistani or Middle Eastern descent
• Being a child of consanguineous parents may have an increased risk

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 Ghosal Hematodiaphyseal Dysplasia Syndrome? (Etiology)

• Ghosal Hematodiaphyseal Dysplasia Syndrome is associated with mutations in the TBXAS1 gene 
• This gene codes for the enzyme thromboxane synthase, which catalyzes the synthesis of thromboxane A2. Thromboxane A2 is involved in platelet activation and aggregation
• The condition is reportedly 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 Ghosal Hematodiaphyseal Dysplasia Syndrome?

The signs and symptoms of Ghosal Hematodiaphyseal Dysplasia Syndrome may include:

• Abnormal cortical bone morphology
• Abnormal form of the vertebral bodies
• Abnormality of femur morphology
• Abnormality of immune systemphysiology
• Abnormality of pelvic girdle bone morphology
• Abnormality of the metaphysis
• Abnormality of tibia morphology
• Anemia
• Bowing of the long bones
• Bone marrow hypocellularity
• Craniofacial hyperostosis
• Diaphyseal thickening
• Diaphyseal dysplasia
• Hyperostosis cranialis interna
• Leukopenia
• Increased bone mineral density
• Myelofibrosis
• Neurological speech impairment
• Refractory anemia
• Splenomegaly
• Thrombocytopenia

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

How is Ghosal Hematodiaphyseal Dysplasia Syndrome Diagnosed?

Ghosal Hematodiaphyseal Dysplasia 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 Ghosal Hematodiaphyseal Dysplasia Syndrome?

The complications of Ghosal Hematodiaphyseal Dysplasia Syndrome may include:

• Episodes of fainting due to severe anemia
• Bruising and excessive bleeding with injuries, if thrombocytopenia is present
• Low self-esteem due to speech impediment

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

How is Ghosal Hematodiaphyseal Dysplasia Syndrome Treated?

There is no cure for Ghosal Hematodiaphyseal Dysplasia Syndrome, since it is a genetic condition. Treatment with low levels of corticosteroids has been reported to efficiently manage signs and symptoms of this condition.

How can Ghosal Hematodiaphyseal Dysplasia Syndrome be Prevented?

Currently, Ghosal Hematodiaphyseal Dysplasia 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), if available, 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 Ghosal Hematodiaphyseal Dysplasia Syndrome? (Outcomes/Resolutions)

• The prognosis of Ghosal Hematodiaphyseal Dysplasia Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• In most cases, the signs and symptoms of the condition can be effectively controlled with prompt diagnosis and treatment with corticosteroids
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ghosal Hematodiaphyseal Dysplasia Syndrome:

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

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