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Disease Profile
Fetal akinesia deformation sequence
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
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ICD-10
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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)
FADS; Fetal akinesia sequence; Pena-Shokeir syndrome, type 1;
Categories
Congenital and Genetic Diseases; Lung Diseases
Summary
Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint
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 | ||
Absent palmar crease |
Absent palm lines
|
0010489 |
Akinesia | 0002304 | |
Arthrogryposis multiplex congenita | 0002804 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Fetal akinesia sequence | 0001989 | |
Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Multiple joint |
0002828 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
30%-79% of people have these symptoms | ||
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cystic hygroma | 0000476 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Generalized amyotrophy |
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] |
0003700 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
0002650 | ||
5%-29% of people have these symptoms | ||
Dandy-Walker malformation | 0001305 | |
Intestinal hypoplasia |
Underdeveloped instestine
|
0005245 |
Pterygium | 0001059 | |
1%-4% of people have these symptoms | ||
Stillbirth |
Stillborn
|
0003826 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal abdomen morphology |
Abnormality of abdomen structure
|
0001438 |
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Absent septum pellucidum | 0001331 | |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cavum septum pellucidum | 0002389 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Depressed nasal tip |
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ] |
0000437 |
Elbow ankylosis | 0003070 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Long philtrum | 0000343 | |
Narrow mouth |
Small mouth
|
0000160 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Drooping upper eyelid
|
0000508 | |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
Short neck |
Decreased length of neck
|
0000470 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short umbilical cord | 0001196 | |
Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Small placenta | 0006266 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin ribs |
Slender ribs
|
0000883 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ] |
0005257 |
Ulnar deviation of the hand | 0009487 | |
Ulnar deviation of the hand or of fingers of the hand | 0001193 |
Cause
Possible causes for decreased fetal movement which may contribute to the features of FADS may include:[2]
- Neurologic abnormalities such as cerebral and cerebellar dysgenesis (abnormal development); spinal tract,
myelin , and end plate disturbances; and ischemia (deficient blood supply) with secondary loss of neuron function - Myopathic (muscle-related) abnormalities such as dystrophies and dyplasias
- Connective
tissue abnormalities including chondrodysplasias, restrictive skin, and joint limitation or laxity - Fetal edema for a variety of reasons (storage, metabolic, heart failure, lymphatic dysplasia, etc.)
- Maternal illness, drugs, and
antibodies (including maternal myasthenia gravis) - Ischemic changes during embryonic/fetal development, which may be due to developmental vascular abnormalities, trauma, hypotension, drugs, infections, and maternal illness or thrombophilia
Diagnosis
GeneTests lists the names of the laboratories that are performing genetic testing for FADS. To view the contact information for these laboratories, click on the following links:
DOK7-Related Fetal Akinesia Deformation Sequence
RAPSN-Related Fetal Akinesia Deformation Sequence
Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
There are similarities between Pena-Shokeir syndrome type I and the trisomy 18 syndrome: both may include multiple ankyloses, camptodactyly, and rocker-bottom feet. Karyotyping permits differential diagnosis.
Visit the Orphanet disease page for more information.
|
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 Fetal akinesia deformation sequence. Click on the link to view a sample search on this topic.
References
- Fetal akinesia deformation sequence. Orphanet. July 2005; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=994. Accessed 10/2/2012.
- JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009; 85(8):677-694.
- F Hoellen et al. Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011; 30(4):289-298.
- Fetal Akinesia Deformation Sequence; FADS. Online Mendelian Inheritance in Man (OMIM). April 2010; https://www.ncbi.nlm.nih.gov/omim/208150. Accessed 6/29/2011.
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