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Disease Profile

Distal arthrogryposis type 5

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.

Unknown

Age of onset

Neonatal

ICD-10

Q68.8

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)

Arthrogryposis ophthalmoplegia retinopathy; Oculomelic amyoplasia; Arthrogryposis with oculomotor limitation and electroretinal abnormalities;

Categories

Congenital and Genetic Diseases

Summary

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

Orpha Number: 1154

Definition
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

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
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin

[ more ]

0010751
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Ophthalmoplegia
Eye muscle paralysis
0000602
Pectus excavatum
Funnel chest
0000767
Ptosis
Drooping upper eyelid
0000508
30%-79% of people have these symptoms
Abnormal electroretinogram
0000512
Absent palmar crease
Absent palm lines
0010489
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Bilateral talipes equinovarus
Club foot on both sides
0001776
Congenital finger flexion contractures
0005879
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual

[ more ]

0004097
Inguinal hernia
0000023
Macrotia
Large ears
0000400
Optic atrophy
0000648
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
5%-29% of people have these symptoms
Hypermetropia
Farsightedness
Long-sightedness

[ more ]

0000540
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Abnormality of retinal pigmentation
0007703
Absent phalangeal crease
0006109
Arthrogryposis multiplex congenita
0002804
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal dominant inheritance
0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Clinodactyly
Permanent curving of the finger
0030084
Decreased facial expression
0004673
Decreased muscle mass
0003199
Decreased palmar creases
Shallow palm line
0006184
Distal arthrogryposis
0005684
Duane anomaly
0009921
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Firm muscles
0003725
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Keratoconus
Bulging cornea
0000563
Keratoglobus
0001119
Limited wrist extension
0006251
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Short stature
Decreased body height
Small stature

[ more ]

0004322

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Distal arthrogryposis type 5. Click on the link to view a sample search on this topic.