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Disease Profile
Fibular hemimelia
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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
Other names (AKA)
Congenital longitudinal deficiency of the fibula; Fibular longitudinal meromelia
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 93323
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 | ||
Difficulty walking |
Difficulty in walking
|
0002355 |
30%-79% of people have these symptoms | ||
Disproportionate prominence of the femoral medial condyle | 0006437 | |
Genu valgum |
Knock knees
|
0002857 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
Short tibia |
Short shinbone
Short skankbone
[ more ] |
0005736 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ] |
0002982 |
5%-29% of people have these symptoms | ||
Abnormal bone ossification | 0011849 | |
Arthralgia of the hip |
Hip joint pain
|
0003365 |
Decreased hip abduction | 0003184 | |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Finger |
0006101 | |
Hip subluxation |
Partial hip dislocation
|
0030043 |
Impairment of activities of daily living | 0031058 | |
Increased laxity of ankles | 0006460 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Knee joint hypermobility |
Knee joint over-flexibility
|
0045086 |
Limited knee flexion/extension | 0005085 | |
Pain | 0012531 | |
Proximal femoral focal deficiency | 0030772 | |
Short femur |
Short thighbone
|
0003097 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Structural foot deformity | 0010219 | |
Talipes equinovalgus | 0001772 | |
Toe syndactyly |
Fused toes
Webbed toes
[ more ] |
0001770 |
1%-4% of people have these symptoms | ||
Abnormal anterior chamber morphology | 0000593 | |
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Abnormal morphology of ulna | 0040071 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
0001363 | ||
Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ] |
0100257 |
Fibular aplasia |
Absent calf bone
|
0002990 |
Foot oligodactyly |
Missing toes
|
0001849 |
Hypoplastic acetabulae | 0003274 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Renal dysplasia | 0000110 | |
Spina bifida | 0002414 | |
Thoracoabdominal wall defect | 0100656 | |
Low platelet count
|
0001873 |
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
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.