Rare Pulmonology News

Disease Profile

Amniotic band syndrome

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

#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

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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)

Amniotic bands sequence; Familial amniotic bands; Streeter anomaly;

Categories

Congenital and Genetic Diseases

Summary

Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude (abdominal wall defects), protrusion of a portion of the brain and its surrounding membranes through a skull defect (encephalocele), and cleft lip and/or palate. In most instances, the cause of amniotic bands remains unknown. Researchers have suggested two main theories to explain the development: the extrinsic theory and the intrinsic theory. The extrinsic theory states that amniotic band syndrome occurs due to factors found outside of the developing baby (externally); the intrinsic theory states that amniotic band syndrome occurs due to factors found within the baby (internally). Treatment differs depending on the severity of the condition and the areas of the body affected and may include surgery, physical therapy, and occupational therapy.[1][2][3]

Symptoms

The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care.[1] When the bands affect the limbs, the lower part of the limbs are most often involved, especially the middle, long, and index fingers of the hand. When the feet are involved, the bands most commonly affect the big toe.[1]

Pressure from the bands may result in additional abnormalities, such as underdevelopment of a limb, bone abnormalities, amputations, leg-length discrepancy, and club feet. Constriction bands across the head and face may lead to facial clefts. Severe clefts affecting vital organs are often life-threatening.[1]

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
Percent of people who have these symptoms is not available through HPO
Abnormal lung lobation
0002101
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Bladder exstrophy
0002836
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Ectopia cordis
0001683
Encephalocele
0002084
Eyelid coloboma
Cleft eyelid
Notched eyelid

[ more ]

0000625
Facial cleft
Cleft of the face
0002006
Gastroschisis
0001543
Hand polydactyly
Extra finger
0001161
Omphalocele
0001539
Scoliosis
0002650
Sporadic
No previous family history
0003745
Syndactyly
Webbed fingers or toes
0001159
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762

Cause

Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby.[4]

Diagnosis

The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound.[5] On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby.[6] However these bands may be difficult to detect by ultrasound, and are more often diagnosed by the results of the fusion, such as missing or deformed limbs.

Treatment

Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic band syndrome who have amputations may benefit from the use of prosthetics.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • More information on limb abnormalities can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • 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 Amniotic band syndrome. Click on the link to view a sample search on this topic.

        References

        1. Do TT. Amniotic Band Syndrome (Streeter Dysplasia). Medscape Reference. August 22, 2016; https://emedicine.medscape.com/article/1260337-overview.
        2. Holmes LB. Amniotic Band Syndrome. NORD. 2015; https://rarediseases.org/rare-diseases/amniotic-band-syndrome/.
        3. Barros M, Gorgal G, Machado AP, Ramalho C, Matias A, Montenegro N. Revisiting Amniotic Band Sequence: A Wide Spectrum of Manifestations. Fetal Diagn Ther. 2014; 35:51-56. https://www.ncbi.nlm.nih.gov/pubmed/24247024.
        4. Kimberly G Lee. Amniotic constriction bands . Medline Plus. December 14, 2009; https://www.nlm.nih.gov/medlineplus/ency/article/001579.htm. Accessed 10/17/2013.
        5. Amniotic Band Syndrome / ABS: An Overview of Amniotic Band Syndrome. The Fetal Care Center of Cincinatti. 2005; https://www.cincinnatichildrens.org/service/f/fetal-care/conditions/abs/default/. Accessed 10/17/2013.
        6. Wehbeh H et al. Obstet Gynecol. 1993; https://www.ncbi.nlm.nih.gov/pubmed/8459968. Accessed 10/17/2013.

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