Osteoglophonic dysplasia

Title

Other Names:

Osteoglophonic dwarfism; Fairbank-Keats syndrome; OGD

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: 2645

Definition

A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

Epidemiology

Less than ten cases have been reported so far.

Clinical description

Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.

Etiology

Osteoglosphonic dysplasia (OGD) is caused by mutations in the FGFR1 gene (8p11.2-p11.1).

Genetic counseling

OGD is transmitted in an autosomal dominant manner.

Visit the Orphanet disease page for more resources.

Last updated: 9/1/2009

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 form of the vertebral bodies		0003312
Craniosynostosis		0001363
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Multiple unerupted teeth	Multiple non-erupting teeth	0006283
Reduced number of teeth	Decreased tooth count	0009804
Severe short stature	Dwarfism Proportionate dwarfism Short stature, severe [ more ]	0003510
30%-79% of people have these symptoms
Abnormality of the clavicle	Abnormal collarbone	0000889
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Failure to thrive in infancy	Faltering weight in infancy Weight faltering in infancy [ more ]	0001531
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Rhizomelia	Disproportionately short upper portion of limb	0008905
5%-29% of people have these symptoms
Abnormal bone ossification		0011849
Brachydactyly	Short fingers or toes	0001156
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Inguinal hernia		0000023
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Scoliosis	Abnormal curving of the spine	0002650
Percent of people who have these symptoms is not available through HPO
Abnormality of the nasopharynx		0001739
Autosomal dominant inheritance		0000006
Bowing of the long bones	Bowed long bones Bowing of long bones [ more ]	0006487
Broad foot	Broad feet Wide foot [ more ]	0001769
Broad metacarpals	Wide long bones of hand	0001230
Broad metatarsal	Wide long bone of foot	0001783
Broad palm	Broad hand Broad hands Wide palm [ more ]	0001169
Broad phalanx	Wide digital bones	0006009
Chordee		0000041
Cloverleaf skull		0002676
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Frontal bossing		0002007
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypoplastic scapulae	Small shoulder blade	0000882
Hypoplastic toenails	Underdeveloped toenails	0001800
Hypospadias		0000047
Increased susceptibility to fractures	Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ]	0002659
Limb undergrowth	limb shortening Short limb Short limbs [ more ]	0009826
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malar flattening	Zygomatic flattening	0000272
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Nasal obstruction	Blockage of nose Nasal blockage Obstruction of nose Stuffy nose [ more ]	0001742
Platyspondyly	Flattened vertebrae	0000926
Pseudoarthrosis		0005864
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Shallow orbits	Decreased depth of eye sockets Shallow eye sockets [ more ]	0000586
Short foot	Short feet Small feet [ more ]	0001773
Short metacarpal	Shortened long bone of hand	0010049
Short metatarsal	Short long bone of foot	0010743
Short neck	Decreased length of neck	0000470
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palm		0004279
Short phalanx of finger	Short finger bones	0009803
Unerupted tooth	Failure of eruption of tooth	0000706

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

Last updated: 9/1/2019

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

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
New Castle upon Tyne
Manchester M13 9PT
NE1 3BZ, United Kingdom
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Osteoglophonic dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Osteoglophonic dysplasia:
International Skeletal Dysplasia Registry (ISDR)

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail: deedee@jhmi.edu
Website: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/

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.

Where to Start

Genetics Home Reference contains information on Osteoglophonic dysplasia. This website is maintained by the National Library of Medicine.

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 Osteoglophonic dysplasia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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