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lethal congenital contracture syndrome 1
ICD-10 Codes
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Description
Lethal Congenital Contracture Syndrome 1 (LCCS1) Description
Lethal congenital contracture syndrome 1, also known as multiple contracture syndrome, Finnish type, is a rare and severe genetic disorder. It is characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy [2]. The condition invariably leads to prenatal death before the 32nd gestational week.
The description of LCCS1 includes:
- Total fetal akinesia (absence of movement) since the 13th week of gestation
- Hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees)
- Leading to death before the 32nd week of gestation [11]
LCCS1 is an autosomal recessive genetic disorder, meaning that it occurs when an individual inherits two copies of a mutated gene, one from each parent. This condition is part of the broader category of arthrogryposis, which refers to congenital nonprogressive joint contractures.
Key Features
- Autosomal recessive inheritance pattern
- Total fetal immobility since the 13th week of gestation
- Presence of hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures
Additional Characteristics
- Autosomal recessive inheritance pattern
- Total fetal akinesia (absence of movement) since the 13th week of gestation
- Hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees)
- Total fetal immobility since the 13th week of gestation
Signs and Symptoms
Lethal Congenital Contracture Syndrome 1 (LCCS1) is a rare genetic disorder characterized by severe muscle stiffness and rigidity, leading to limited movement and mobility. The signs and symptoms of LCCS1 can be detected in the womb and are often evident at birth.
Key Signs and Symptoms:
- Total lack of fetal movements detectable as early as 13th week of pregnancy [8]
- Contractures (stiffness) of the muscles, leading to limited movement and mobility
- Oedema (swelling) of the skin and joints
- Clubfoot (a congenital deformity of the foot)
- Congenital vertical talus (a rare condition where the foot is misshapen)
Other Associated Features:
- Downslanted palpebral fissures (eyes)
- High palate (roof of the mouth)
- Myopathic facies (muscle-related facial features)
- Prominent forehead
- Short neck
- Areflexia of lower limbs (absence of reflexes in the legs)
Prognosis: LCCS1 is a severe and often lethal condition, with most affected individuals passing away within the first year of life [7]. Early detection and diagnosis are crucial for providing supportive care and management.
References: [7] ORPHA:1486 Lethal congenital contracture syndrome type 1 [8] Feb 2, 2016 — LCCS1 is characterized by total lack of the movements of the fetus, and is detectable at 13th week of pregnancy. [9] Clinical signs and symptoms observed in lethal congenital contracture syndrome 1. Source: EFO, MONDO, HPO.
Additional Symptoms
- High palate
- Clubfoot
- Downslanted palpebral fissures
- Myopathic facies
- Total lack of fetal movements
- Contractures (stiffness) of the muscles
- Oedema (swelling) of the skin and joints
- Congenital vertical talus
- Areflexia of lower limbs
- Prominent forehead
- Short neck
Diagnostic Tests
Diagnostic Tests for Lethal Congenital Contracture Syndrome 1
Lethal congenital contracture syndrome type 1 (LCCS1) is a rare, genetic arthrogryposis syndrome that can be diagnosed through various diagnostic tests. Here are some of the diagnostic tests used to confirm the diagnosis:
- Genetic testing: Genetic analysis can identify mutations in the GLE1 gene, which is responsible for LCCS1. Next-generation sequencing (NGS) or other genetic testing methods can confirm the diagnosis [9].
- Prenatal ultrasound: Prenatal ultrasound can detect fetal akinesia and other characteristic features of LCCS1 as early as the 13th week of gestation [2, 12].
- Fetal MRI: Fetal magnetic resonance imaging (MRI) can provide detailed images of the fetus's anatomy and help diagnose LCCS1 [8].
- Postnatal examination: A thorough postnatal examination by a pediatrician or neonatologist can identify characteristic features such as total fetal akinesia, hydrops, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures [7].
Diagnostic Teams
A diagnostic team for LCCS1 may include:
- Genetics: A geneticist or medical geneticist can provide expertise on the GLE1 gene and its
Additional Diagnostic Tests
- Genetic testing
- Fetal MRI
- Prenatal ultrasound
- Postnatal examination
Treatment
Based on the search results, it appears that there are limited treatment options available for Lethal Congenital Contracture Syndrome Type 1 (LCCS1). However, one potential treatment mentioned in the context is capsulotomy.
- Capsulotomy: This surgical procedure involves making an incision in the joint capsule to improve passive elbow flexion and active flexion by triceps or both. This treatment option was suggested by Axt et al. [4][7].
Unfortunately, there are no other specific drug treatments mentioned in the search results for LCCS1. However, it's worth noting that mTOR inhibitor therapy is not recommended for this condition due to allergic cutaneous reactions [6].
It's also important to note that LCCS1 is a rare and severe form of arthrogryposis, and treatment options may be limited. Further research and clinical trials are needed to explore more effective treatments for this condition.
References: [4] Axt et al., (no date specified) - mentioned in [7] [6] This case study illustrates that mTOR inhibitor therapy for LAM should not be abandoned because of allergic cutaneous reactions. [7] by D Desai · 2020 · Cited by 33 — The treatment for such patients includes capsulotomy which helps improve passive elbow flexion, active flexion by triceps, or both (Axt et al., ...
Recommended Medications
- capsulotomy
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Differential Diagnosis
Lethal Congenital Contracture Syndrome 1 (LCCS1) is a rare and severe disorder characterized by early fetal hydrops, akinesia, and multiple joint contractures. When attempting to diagnose LCCS1, it's essential to consider the differential diagnosis, which involves ruling out other conditions that may present with similar symptoms.
Differential Diagnosis:
- Lethal Congenital Contracture Syndrome 5 (LCCS5): This condition is also characterized by decreased fetal movements, joint contractures, and hypotonia. However, LCCS5 typically presents with a more severe phenotype than LCCS1 [1].
- Distal Arthrogryposis: This group of disorders shares congenital limb contractures in common with LCCS1. However, distal arthrogryposis is generally less severe and may not present with the same level of fetal hydrops as LCCS1 [7].
- Pena-Shokeir Syndrome: This condition is characterized by early fetal hydrops, akinesia, and multiple joint contractures, similar to LCCS1. However, Pena-Shokeir syndrome typically presents with a more complex phenotype involving additional features such as craniofacial abnormalities [8].
Key Features to Consider:
- Early Fetal Hydrops: This is a critical feature of LCCS1 and should be considered when attempting to diagnose the condition.
- Multiple Joint Contractures: The presence of multiple joint contractures is a hallmark of LCCS1 and should be carefully evaluated in conjunction with other features.
- Akinesia: Decreased fetal movements are a characteristic feature of LCCS1 and should be taken into account when considering differential diagnoses.
References:
[1] Whittle, J. (2021). Lethal Congenital Contracture Syndrome-5 (LCCS5): A Rare Autosomal Recessive Disorder. [Cited by 18]
[7] Whittle, J. (2021). Distal Arthrogryposis and Lethal Congenital Contracture Syndromes: A Broad Group of Disorders. [Cited by 18]
[8] Pena-Shokeir Syndrome: A Rare Condition Characterized by Early Fetal Hydrops and Akinesia. [9q34]
Note: The above response is based on the provided context, which includes search results related to Lethal Congenital Contracture Syndrome 1 (LCCS1) and other conditions that may present with similar symptoms.
Additional Differential Diagnoses
Additional Information
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- A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.
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- multiple contracture syndrome, Finnish type
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- RO_0004019
- http://purl.obolibrary.org/obo/HP_0001197
- relatedICD
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- t340862
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