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Bowen-Conradi syndrome
ICD-10 Codes
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Description
Bowen-Conradi Syndrome: A Rare Genetic Disorder
Bowen-Conradi syndrome, also known as Bowen-Hutterite syndrome, is a rare genetic disorder that affects multiple parts of the body. The condition is characterized by:
- Growth delays: Affected individuals experience growth retardation before birth and continue to have feeding problems and slow growth during infancy [1][2].
- Microcephaly: A distinctive feature of Bowen-Conradi syndrome is microcephaly, which refers to a smaller-than-average head size [3].
- Malformations: The disorder can also cause malformations of the face, hands, and feet [4].
- Failure to thrive: Infants with Bowen-Conradi syndrome often experience failure to thrive, meaning they do not gain weight or grow at a normal rate [5].
Autosomal Recessive Inheritance
Bowen-Conradi syndrome is inherited in an autosomal recessive pattern, which means that affected individuals have two copies of the mutated gene (one from each parent) [6][7]. This condition is usually fatal in infancy due to severe neurologic disease and airway problems [8].
References:
[1] Context 1: Feb 1, 2015 [2] Context 4: Aug 8, 2007 [3] Context 2: Feb 1, 2015 [4] Context 3: Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the ... [5] Context 5: Feb 1, 2015 — Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low ... [6] Context 9: The disease is due to an autosomal recessive abnormality of the EMG1 gene. [7] Context 8: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, ... [8] Context 6: An autosomal recessive transmitted disease resulting in death in the first year of life secondary to neurologic disease and airway problems.
Additional Characteristics
- Microcephaly
- Failure to thrive
- Growth delays
- Malformations
Signs and Symptoms
Bowen-Conradi Syndrome: A Rare Genetic Disorder
Bowen-Conradi syndrome is a rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. The major features of this syndrome include:
- Prenatal and postnatal growth retardation: Affected individuals experience slow growth and development both before and after birth.
- Low birth weight: Babies with Bowen-Conradi syndrome are often born with low birth weight, which can be a sign of their overall health issues.
- Micro- and dolichocephaly: The head is unusually small (microcephaly) but longer than expected compared to the body.
- Sloping forehead: A distinctive feature of this syndrome is a sloping forehead, which can be a noticeable characteristic.
- Feeding problems: Affected individuals often experience feeding difficulties, which can lead to failure to thrive.
- Developmental delays: Babies with Bowen-Conradi syndrome may not achieve developmental milestones such as smiling or sitting.
Additional Symptoms
Some affected infants may also exhibit:
- Prominent 'proud' nose
- Micrognathia (small lower jaw)
- Fifth finger clinodactyly (curved fifth finger)
- 'Rocker-bottom' feet
- Death in the first months of life: Unfortunately, Bowen-Conradi syndrome is often fatal in infancy.
Genetic Basis
Bowen-Conradi syndrome is caused by an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. This genetic mutation can lead to the characteristic symptoms and features of this rare disorder.
References:
- [4] Some affected infants may also ...
- [8] The major features consist of proportional prenatal and postnatal growth retardation with low birth weight, micro- and dolichocephaly, sloping forehead with ...
- [9] December 24, 2020 - Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly.
- [6] January 5, 2024 - Bowen–Conradi syndrome is a disease in humans that can affect children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.
- [3] Among the offspring of second-cousin Hutterite parents, Bowen and Conradi (1976) described 2 males with a distinctive syndrome: prominent 'proud' nose, micrognathia, fifth finger clinodactyly, 'rocker-bottom' feet, and death in the first months of life.
Additional Symptoms
- Feeding problems
- Developmental delays
- Prenatal and postnatal growth retardation
- Micro- and dolichocephaly
- Sloping forehead
- Prominent 'proud' nose
- Micrognathia (small lower jaw)
- Fifth finger clinodactyly (curved fifth finger)
- 'Rocker-bottom' feet
- Death in the first months of life
- low birth weight
Diagnostic Tests
Diagnostic Tests for Bowen-Conradi Syndrome
Bowen-Conradi syndrome, also known as Bowen-Hutterite syndrome, is a rare genetic disorder that can be diagnosed through various clinical and molecular tests.
- Molecular Genetics Tests: A next-generation sequencing (NGS) test is available to diagnose individuals with clinical signs and symptoms, suspicion of, or family history of Bowen-Conradi syndrome. This test is specifically designed for the EMG1 gene, which provides instructions for making a protein involved in growth and development [7].
- Clinical tests: Six clinical tests are available in the database for this condition, including molecular genetics tests and other relevant clinical tests [3].
Confirming Diagnosis
Diagnosis of Bowen-Conradi syndrome is typically made postnatally based on clinical manifestations. Molecular testing can then confirm the diagnosis [1]. The disorder is characterized by growth delays before birth and can be identified through various diagnostic tests.
References:
- [1] Diagnosis is typically made postnatally based on clinical manifestations and can then be confirmed with molecular testing.
- [3] 6 tests are in the database for this condition. Check Related conditions for additional relevant tests. Clinical tests (6 available). Molecular Genetics Tests.
- [7] Feb 1, 2015 — Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the ...
Additional Diagnostic Tests
- Molecular Genetics Tests
- Clinical tests (6 available)
- NGS test
Treatment
Symptomatic Treatment Only
Unfortunately, there is no curative treatment available for Bowen-Conradi syndrome. The treatment is merely symptomatic, focusing on managing the various physical abnormalities and complications associated with the condition.
- Feeding difficulties: Most infants require tube feeding due to compromised feeding.
- Other symptoms: Treatment may also involve addressing other symptoms such as small head size (microcephaly), prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and other malformations.
According to [3], the natural history of Bowen-Conradi syndrome is similar to aneuploidy syndromes such as trisomy 18. This suggests that the condition is severe and often fatal in infancy.
Researchers are exploring potential treatments, including drugs that stabilize EMG1 D86G, a protein involved in ribosomal biogenesis [7]. However, these efforts are still in the early stages, and no effective treatment has been established yet.
It's essential to note that Bowen-Conradi syndrome is a rare genetic disorder with a high mortality rate. The focus of treatment is on providing supportive care and managing symptoms to improve the quality of life for affected individuals.
References:
[3] - Up-to-date treatment and research information; Patient registries; ... Orphanet is an online database of rare diseases and orphan drugs that provides aggregated ... [7] - Together, these insights into the dysfunction of EMG1 D86G in BCS highlight the possibility of development of drugs that stabilise EMG1 D86G for treatment of BCS. Materials and ...
💊 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
Differential Diagnosis of Bowen-Conradi Syndrome
Bowen-Conradi syndrome, also known as C syndrome, is a rare genetic disorder that affects multiple parts of the body. The differential diagnosis for this condition involves distinguishing it from other similar disorders.
- Smith-Lemli-Opitz syndrome: This is another possible differential diagnosis for Bowen-Conradi syndrome. Fortunately, all these disorders are distinguished genetically, making it easier to diagnose the correct condition [8].
- Microcephaly and distinctive facial features: The major features of Bowen-Conradi syndrome include proportionate intrauterine growth retardation, microcephaly, micrognathia, and other distinct facial features [6]. These symptoms can also be present in other conditions, making differential diagnosis essential.
- Trisomy 18: Bowen-Conradi syndrome has significant clinical overlap with trisomy 18, a genetic disorder that affects multiple parts of the body. The two conditions share similar symptoms, including growth retardation and distinct facial features [3].
Key Points to Consider
- Bowen-Conradi syndrome is an autosomal recessive condition, meaning it is inherited in an autosomal recessive pattern.
- The differential diagnosis for this condition involves distinguishing it from other genetic disorders that affect multiple
Additional Differential Diagnoses
- Microcephaly and distinctive facial features
- Trisomy 18
- Smith-Lemli-Opitz syndrome
Additional Information
- relatedICD
- http://example.org/icd10/C50.412
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- A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
- oboInOwl#hasExactSynonym
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- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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