Craniofacial dysostosis with diaphyseal hyperplasia

Title

Other Names:

Dysostosis Stanescu type; Stanescu osteosclerosis

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1798

Disease definition

Stanescu type dysostosis is a rare form of osteosclerosis.

Epidemiology

So far it has been described in around 30 patients from three families.

Clinical description

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.

Genetic counseling

The syndrome is inherited in an autosomal dominant manner.

Visit the Orphanet disease page for more resources.

Last updated: 3/17/2009

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal nasal morphology	Abnormal of nasal shape Abnormal of shape of nose [ more ]	0005105
Abnormal palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Bowing of the long bones	Bowed long bones Bowing of long bones [ more ]	0006487
Brachydactyly	Short fingers or toes	0001156
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
Flat face	Flat facial shape	0012368
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Increased bone mineral density	Increased bone density	0011001
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Massively thickened long bone cortices		0005665
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micromelia	Smaller or shorter than typical limbs	0002983
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Narrow nasal bridge	Narrow bridge of nose Nasal Bridge, Narrow Nasal bridge, thin [ more ]	0000446
Pectus excavatum	Funnel chest	0000767
Persistent open anterior fontanelle		0004474
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Scoliosis	Abnormal curving of the spine	0002650
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal dysplasia		0002652
30%-79% of people have these symptoms
Brachycephaly	Short and broad skull	0000248
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Hyperlordosis	Prominent swayback	0003307
Kyphosis	Hunched back Round back [ more ]	0002808
Reduced number of teeth	Decreased tooth count	0009804
5%-29% of people have these symptoms
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Exostoses	Formation of new noncancerous bone on top of existing bone	0100777
Short neck	Decreased length of neck	0000470
Wormian bones	Extra bones within cranial sutures	0002645
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Craniofacial dysostosis		0004439
Kyphoscoliosis		0002751
Limb undergrowth	limb shortening Short limb Short limbs [ more ]	0009826
Thin calvarium	Thin cranial bone	0010539

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2019

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Craniofacial dysostosis with diaphyseal hyperplasia. Click on the link to view a sample search on this topic.

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