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Disease Profile

Osteoglophonic dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Osteoglophonic dwarfism; Fairbank-Keats syndrome; OGD

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

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.

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.

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
Abnormal clavicle morphology
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
0002650
Percent of people who have these symptoms is not available through HPO
Abnormal nasopharynx morphology
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 ]<

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.

    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.

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