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Disease Profile
Phocomelia ectrodactyly deafness sinus arrhythmia
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
Q87.2
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)
Stoll-Levy-Francfort syndrome; Stoll-Lévy-Francfort syndrome; Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Musculoskeletal Diseases
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 nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ] |
0005105 |
Abnormality of the antitragus | 0009896 | |
Abnormality of the nares |
Abnormality of the nostrils
|
0005288 |
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] |
0009906 |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Asymmetric radial dysplasia | 0006420 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Deep philtrum | 0002002 | |
Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ] |
0100257 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Long philtrum | 0000343 | |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Short 2nd metacarpal |
Shortened 2nd long bone of hand
|
0010038 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
Upper limb phocomelia | 0009813 | |
30%-79% of people have these symptoms | ||
Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ] |
0006482 |
Radial club hand | 0004059 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Anterior vertebral fusion | 0004557 | |
0000006 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
Long clavicles |
Long collarbone
|
0000890 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mesomelic arm shortening | 0005011 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Phocomelia | 0009829 | |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Shoulder dislocation | 0003834 | |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
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.