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Disease Profile
Frontometaphyseal dysplasia
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.
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Age of onset
Neonatal
ICD-10
Q78.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Frontometaphyseal dysplasia (FMD) is a genetic disorder characterized by abnormalities in skeletal development and problems in other
Symptoms
- Skeletal dysplasia (enlargement of the bones in the frontal part of the skull, skull base sclerosis, as well as in the medial part (diaphysis) of the long bones and the part between the diaphysis and the end parts of the bones, small tips of the bones of the fingers)
- Progressive
contractures of the hand and other bones of the body over the first 20 years resulting in limited movement of the hand, fingers, wrists, elbows, knees, and ankles - Scoliosis
- Limb bowing
- Deformed fingers
- Facial dysmorphism (big frontal, wide-spaced eyes, down-slanting eye slits, broad nose bridge and tip, small or less teeth than normal and occasionally
craniosynostosis (when the sutures of the skull closed too early)) Hearing loss .
Other features include
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 | ||
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long fingers | 0100807 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Scoliosis | 0002650 | |
Skeletal dysplasia | 0002652 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Dislocated radial head | 0003083 | |
Elbow flexion contracture |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Fused cervical vertebrae |
Fused neck
|
0002949 |
Hydronephrosis | 0000126 | |
Keloids | 0010562 | |
Limitation of knee mobility |
Limited knee movement
|
0010501 |
Limitation of movement at ankles | 0010505 | |
Limited wrist movement |
Limited movement of the wrist
|
0006248 |
Metacarpophalangeal joint contracture | 0006070 | |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Pes valgus | 0008081 | |
Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
Short diaphyses |
Short shaft of long bone
|
0000941 |
Short distal phalanx of the thumb |
Short outermost bone of the thumb
|
0009650 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Subglottic stenosis | 0001607 | |
Ulnar deviation of the hand | 0009487 | |
Ureteral obstruction | 0006000 | |
Urethral stenosis |
Narrowing of the urethra
|
0008661 |
Wrist flexion contracture | 0001239 | |
5%-29% of people have these symptoms | ||
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Arnold-Chiari malformation | 0002308 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Bifid uvula | 0000193 | |
Craniosynostosis | 0001363 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypotrophy of the small hand muscles |
Degeneration of small hand muscles
|
0006006 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Pes cavus |
High-arched foot
|
0001761 |
Progressive bowing of long bones | 0006383 | |
Shoulder muscle hypoplasia |
Underdeveloped shoulder muscle
|
0008952 |
Single transverse palmar crease | 0000954 | |
Spina bifida occulta | 0003298 | |
Sprengel anomaly |
High shoulder blade
|
0000912 |
Percent of people who have these symptoms is not available through HPO | ||
Ankle flexion contracture | 0006466 | |
Antegonial notching of mandible | 0003779 | |
Anteriorly placed odontoid process | 0004608 | |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Broad phalanges of the hand |
Wide hand bones
|
0009768 |
Coat hanger sign of ribs | 0006665 | |
Cor pulmonale | 0001648 | |
Coxa valga | 0002673 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
DiagnosisMaking 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
Learn moreThese 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
In-Depth Information
References
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