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

• Autosomal Dominant Osteosclerosis, Stanescu type
• Craniofacial Dysostosis-Diaphyseal Hyperplasia Syndrome
• Dysostosis, Stanescu type

What is Craniofacial Dysostosis with Diaphyseal Hyperplasia? (Definition/Background Information)

• Craniofacial Dysostosis with Diaphyseal Hyperplasia or Stanescu Type Dysostosis is a rare form of osteosclerosis
• It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. 
• The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age.

(Source: Craniofacial Dysostosis with Diaphyseal Hyperplasia; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Craniofacial Dysostosis with Diaphyseal Hyperplasia? (Age and Sex Distribution)

• Craniofacial Dysostosis with Diaphyseal Hyperplasia is a rare congenital disorder that has been only described in about 30 individuals belonging to 3 families
• The onset of disease symptoms may occur at birth
• Both males and females may be affected

What are the Risk Factors for Craniofacial Dysostosis with Diaphyseal Hyperplasia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Craniofacial Dysostosis with Diaphyseal Hyperplasia can be inherited
• Children of consanguineous parents may bear an increased risk of being born with this disorder 
• Currently, no other risk factors have been clearly identified for the condition

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 Craniofacial Dysostosis with Diaphyseal Hyperplasia? (Etiology)

• The cause of Craniofacial Dysostosis with Diaphyseal Hyperplasia is unknown
• It is reportedly a genetic disorder that is inherited in an autosomal dominant pattern

Autosomal dominant inheritance: 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 Craniofacial Dysostosis with Diaphyseal Hyperplasia?

Based on the frequency of symptoms observed, the following information may be noted with regards the signs and symptoms of Craniofacial Dysostosis with Diaphyseal Hyperplasia.

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

• Abnormal nasal morphology
• Abnormality of dental enamel
• Abnormality of the palate
• Bowing of the long bones
• Brachydactyly
• Cerebral calcification
• Flat face
• Hypertelorism
• Hypoplasia of the maxilla
• Hypoplasia of the zygomatic bone
• Increased bone mineral density
• Massively thickened long bone cortices
• Microcephaly
• Micromelia
• Midface retrusion
• Narrow nasal bridge
• Pectus excavatum
• Persistent open anterior fontanelle
• Proptosis
• Scoliosis
• Skeletal dysplasia

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

• Brachycephaly
• Carious teeth
• Hyperlordosis
• Kyphosis
• Reduced number of teeth

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

• Abnormality of epiphysis morphology
• Abnormality of the metaphysis
• Convex nasal ridge
• Exostoses
• Short neck
• Wormian bones

(Source: Craniofacial Dysostosis with Diaphyseal Hyperplasia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Craniofacial Dysostosis with Diaphyseal Hyperplasia Diagnosed?

Craniofacial Dysostosis with Diaphyseal Hyperplasia 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 Craniofacial Dysostosis with Diaphyseal Hyperplasia?

The complications of Craniofacial Dysostosis with Diaphyseal Hyperplasia may include:

• Severe skeletal defects
• Emotional stress

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

How is Craniofacial Dysostosis with Diaphyseal Hyperplasia Treated?

There is no cure for Craniofacial Dysostosis with Diaphyseal Hyperplasia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Craniofacial Dysostosis with Diaphyseal Hyperplasia be Prevented?

Currently, Craniofacial Dysostosis with Diaphyseal Hyperplasia 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 Craniofacial Dysostosis with Diaphyseal Hyperplasia? (Outcomes/Resolutions)

• The prognosis of Craniofacial Dysostosis with Diaphyseal Hyperplasia 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 Craniofacial Dysostosis with Diaphyseal Hyperplasia:

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

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