Rare Oncology News

Disease Profile

Phocomelia ectrodactyly deafness sinus arrhythmia

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

Q87.2

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.

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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)

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
Autosomal dominant inheritance
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
Short stature
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.