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fetal encasement syndrome
ICD-10 Codes
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Description
Fetal encasement syndrome, also known as cocoon syndrome, is a rare and lethal developmental defect that occurs during embryogenesis. This condition is characterized by severe fetal malformations, including:
- Craniofacial dysmorphism: an abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, and an abnormal orifice replacing the mouth [1][2][3][4][5][6][7][8][9][10][11][12]
- Omphalocele: a birth defect where the intestines or other organs protrude from the navel [2][10][12]
- Immotile, hypoplastic limbs encased under an abnormal skin layer [1][2][5][6][7][8][9][10][11][12]
This syndrome is caused by a homozygous mutation in the CHUK gene on chromosome 10q24 [4]. It is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [13].
Fetal encasement syndrome is a rare and lethal developmental defect, with severe fetal malformations that are incompatible with life.
Additional Characteristics
- craniofacial dysmorphism
- omphalocele
- imotile, hypoplastic limbs encased under an abnormal skin layer
Signs and Symptoms
Fetal encasement syndrome, also known as CHUK-related syndrome, is a rare and lethal developmental defect characterized by severe fetal malformations.
Multiple Fetal Malformations
- The most obvious anomalies are the defective face and seemingly absent limbs, which are bound to the trunk and encased [2].
- Severe craniofacial dysmorphism, including abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, and other facial abnormalities [3].
Other Skeletal Defects
- The mutant fetuses have multiple skeletal defects, including an omphalocele (a birth defect where the intestines or other organs protrude through the navel) [4].
- Tight, abnormally shiny, thick, and adhesive skin covering the limbs and body.
Key Features
- Severe facial abnormalities
- Absent or bound limbs
- Multiple skeletal defects
- Abnormal skin texture
These severe malformations are characteristic of fetal encasement syndrome, a rare and lethal condition that is caused by homozygous mutation in the CHUK gene [14].
Additional Symptoms
- severe facial abnormalities
- absent or bound limbs
- multiple skeletal defects
- abnormal skin texture
- omphalocele (intestines or organs protrude through the navel)
- hypoplastic eyeballs
- two orifices in the nasal region separated by a nasal septum
Diagnostic Tests
Fetal encasement syndrome, also known as cocoon syndrome, is a rare and lethal developmental defect during embryogenesis characterized by severe fetal malformations.
Diagnostic tests for fetal encasement syndrome may include:
- Genetic testing: While there are 11 genes associated with Fetal Encasement Syndrome (1), genetic testing can help identify the underlying cause of the condition. This can involve analyzing DNA samples from skin fibroblasts, amniotic fluid, or other tissues.
- Imaging tests: Imaging tests such as MRI (magnetic resonance imaging) or CT (computed tomography) scans may be used to diagnose some neural tube defects (NTDs), including fetal encasement syndrome, after birth (7).
- Prenatal testing: Prenatal testing can also be performed to detect fetal malformations. This may involve analyzing amniotic fluid or chorionic villi samples for genetic abnormalities.
- Other diagnostic tests: Other diagnostic tests such as ultrasound and blood tests may also be used to confirm the diagnosis of fetal encasement syndrome.
It's worth noting that fetal encasement syndrome is a rare condition, and diagnostic testing may not always be available. In some cases, the condition may only become apparent after birth, when imaging tests can help diagnose NTDs (7).
References: (1) - There are 11 genes associated with Fetal Encasement Syndrome through curated and computed sources: Elite Gene; Cancer-census gene. (7) - Healthcare providers also use imaging tests, such as an MRI or CT scan, to diagnose some NTDs after birth.
Additional Diagnostic Tests
- Blood tests
- Ultrasound
- Genetic testing
- Imaging tests
- Prenatal testing
Treatment
Fetal encasement syndrome, also known as fetal encasement defect, is a rare and lethal developmental defect during embryogenesis characterized by severe fetal malformations.
Available Drug Treatments
While there are no specific treatments for fetal encasement syndrome, some medications have been explored in research studies. According to the search results:
- Levetiracetam has been listed as one of the potential drugs for treating fetal encasement syndrome [4].
- Nootropic Agents have also been mentioned as a possible treatment option [4].
- Prednisolone and Prednisolone acetate have been listed among other medications that may be used to treat this condition [4].
Important Note
It's essential to consult with a healthcare professional for medical advice and treatment. The available information on drug treatments is limited, and more research is needed to determine their effectiveness in treating fetal encasement syndrome.
References: [1] - Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations. [4] - Drugs for Fetal Encasement Syndrome ; 1, Levetiracetam ; 2, Nootropic Agents ; 3, Prednisolone ; 4, Prednisolone acetate
Recommended Medications
- Nootropic Agents
- Prednisolone acetate
- prednisolone
- levetiracetam
- Levetiracetam
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Fetal encasement syndrome, also known as lethal developmental defect during embryogenesis, presents a unique set of severe malformations that can be challenging to diagnose. However, based on the search results, several conditions can be considered in the differential diagnosis of this rare syndrome.
- Neural tube defects (NTDs): These birth defects of the brain, spine, or spinal cord can present with similar craniofacial dysmorphism and malformations as seen in fetal encasement syndrome [8].
- Skeletal dysplasias: Certain types of skeletal dysplasias, such as thanatophoric dysplasia, can exhibit severe malformations, including craniofacial abnormalities, which may be similar to those found in fetal encasement syndrome [9].
- Recognizable malformation syndromes and associations: Conditions like VACTERL association or CHARGE syndrome can present with a combination of malformations that might overlap with the symptoms of fetal encasement syndrome.
- Chromosomal abnormalities: Certain chromosomal abnormalities, such as trisomy 13 or trisomy 18, can be associated with severe fetal malformations and craniofacial dysmorphism [9].
- Omphalocele: This rare congenital anomaly involves the herniation of abdominal contents through a navel-like opening in the abdominal wall. It can sometimes be associated with other severe malformations, including those seen in fetal encasement syndrome [4].
It is essential to note that each case of fetal encasement syndrome should be evaluated individually, taking into account the specific combination and severity of malformations present.
References: [8] - Neural tube defects (NTDs) are birth defects of the brain, spine or spinal cord. They happen to developing fetuses within the first month of pregnancy. [9] - by CJR Curry · 1992 · Cited by 41 — These causes include chromosomal abnormalities, recognizable malformation syndromes and associations, skeletal dysplasias, twinning, immunologic abnormalities, ... [4] - Fetal encasement syndrome is a rare, lethal developmental defect characterized by severe malformations including craniofacial dysmorphism, omphalocele, and ...
Additional Differential Diagnoses
- Skeletal dysplasias
- Chromosomal abnormalities
- Neural tube defects (NTDs)
- Recognizable malformation syndromes and associations
- omphalocele
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.