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Cole-Carpenter syndrome
ICD-10 Codes
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Description
Cole-Carpenter Syndrome: A Rare Bone Disorder
Cole-Carpenter syndrome is an extremely rare and severe form of bone dysplasia, characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures [1]. This condition affects less than 10 people worldwide, making it a rare variant of osteogenesis imperfecta [8].
Key Features:
- Bone fragility with frequent fractures
- Craniosynostosis (premature fusion of the bones in the skull)
- Ocular proptosis (bulging eyes)
- Hydrocephalus (fluid accumulation in the brain)
- Distinctive facial features, such as marked frontal bossing [6]
Causes and Inheritance:
Cole-Carpenter syndrome is an autosomal recessive medical condition, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [8]. It is characterized by defective synthesis of collagen type I, resulting in defective collagen formation and brittle bones [10].
References:
[1] F Rauch · 2015 [6] It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, ... [8] Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. [10] Result: a group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation; it is characterized by brittle and easily fractured bones
Additional Characteristics
- Bone fragility with frequent fractures
- Craniosynostosis (premature fusion of the bones in the skull)
- Ocular proptosis (bulging eyes)
- Hydrocephalus (fluid accumulation in the brain)
- Distinctive facial features, such as marked frontal bossing
Signs and Symptoms
Overview of Cole-Carpenter Syndrome
Cole-Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans, affecting less than a handful of individuals worldwide [4]. The symptoms of this disorder vary considerably, even within the same family, and can be similar to another genetic condition called Greig cephalopolysyndactyly syndrome [1].
Common Symptoms
Some common signs and symptoms of Cole-Carpenter syndrome include:
- Bone fragility: Individuals with Cole-Carpenter syndrome often experience frequent fractures due to bone fragility, which is associated with osteogenesis imperfecta [8].
- Craniosynostosis: This condition can lead to premature fusion of the bones in the skull, resulting in a misshapen head [14].
- Ocular proptosis: Individuals may experience protruding eyes due to craniosynostosis and other facial deformities [9].
- Hydrocephalus: In some cases, Cole-Carpenter syndrome can lead to an accumulation of fluid in the brain, resulting in hydrocephalus [9].
- Growth failure: Children with Cole-Carpenter syndrome may experience growth failure due to various factors, including bone fragility and other systemic issues [8].
Other Possible Symptoms
In addition to these common symptoms, individuals with Cole-Carpenter syndrome may also experience:
- Facial deformities: Abnormally formed eye sockets, flat nasal bridge, small upper or lower jaw, and misshapen ears are some of the possible facial deformities associated with this condition [14].
- Connective tissue disorder: Some individuals may exhibit signs of a connective tissue disorder, including osteopenia, pathologic fracture, yellow/gray discolored teeth, blue sclerae, and easy bruising [5].
References
[1] The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. [4] Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. [8] An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, [9] by F Rauch · 2015 · Cited by 108 — Cole-Carpenter syndrome is a severe bone fragility disorder
Additional Symptoms
- Craniosynostosis
- Easy bruising
- Growth failure
- Facial deformities
- Bone fragility
- Ocular proptosis
- Connective tissue disorder
- Osteopenia
- Pathologic fracture
- gray discolored teeth
- Blue sclerae
- hydrocephalus
Diagnostic Tests
Diagnostic Tests for Cole-Carpenter Syndrome
Cole-Carpenter syndrome is a rare genetic disorder characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Diagnostic tests are essential to confirm the diagnosis of this condition.
- Genetic Analysis: Genetic analysis, specifically sequence analysis of the entire coding region, Next-Generation (NGS)/Massively Parallel Sequencing (MPS), is recommended for individuals with a personal and/or family history of Cole-Carpenter syndrome [4][6]. This test helps provide a molecular diagnosis of the disorder.
- Clinical Molecular Genetics Test: A clinical molecular genetics test for Cole-Carpenter syndrome is available, which includes sequence analysis of the entire coding region [2].
- Imaging Studies: Imaging studies such as CT scans or MRI may be used to get pictures of the skull, heart, skeleton, and organs to help diagnose Cole-Carpenter syndrome [7].
It's essential to note that these diagnostic tests are typically performed by a qualified healthcare professional, such as a geneticist or a medical geneticist.
References:
[1] Not applicable (no relevant information in search results)
[2] Clinical Molecular Genetics test for Cole-Carpenter syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively Parallel Sequencing (MPS) [3]
[4] May 1, 2013 — Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other features [5]
[6] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure [8]
[7] Jul 5, 2022 — How is Carpenter syndrome diagnosed? · CT scan or MRI to get pictures of the skull, heart, skeleton and organs. ·
Additional Diagnostic Tests
- Imaging Studies
- Genetic Analysis
- Clinical Molecular Genetics Test
Treatment
Treatment Overview
Cole-Carpenter syndrome, an extremely rare form of bone dysplasia, does not have a specific treatment. However, there are some management strategies that can be employed to alleviate symptoms and improve quality of life.
- Bisphosphonates: While bisphosphonates may not be effective in treating Cole-Carpenter syndrome, they may help manage the associated bone fragility and fractures [7][8].
- Pamidronate infusions: In some cases, intravenous pamidronate infusions have been administered to patients with Cole-Carpenter syndrome, but this has not resulted in any significant improvement in clinical status [1].
General Treatment Approach
It is essential for individuals with Cole-Carpenter syndrome to consult with a healthcare professional for personalized medical advice and treatment. A multidisciplinary team of experts, including orthopedic specialists, endocrinologists, and geneticists, can provide comprehensive care and guidance.
- Regular monitoring: Regular follow-up appointments with a healthcare provider are crucial to monitor the progression of the condition and address any emerging complications [5][6].
- Pain management: Effective pain management strategies should be implemented to alleviate discomfort and improve overall well-being.
- Fracture prevention: Measures to prevent fractures, such as using protective gear and taking precautions to avoid injuries, can help minimize the risk of further complications.
Important Considerations
It is essential to note that Cole-Carpenter syndrome is a rare and complex condition. As such, treatment approaches may vary depending on individual circumstances. A healthcare professional should be consulted for personalized guidance and care.
References:
[1] by F Rauch · 2015 · Cited by 108 — He received four cycles of intravenous pamidronate infusions over a 12-month period, with no obvious change in clinical status, even though lumbar spine areal ...
[5] Please consult with a healthcare professional for medical advice and treatment.
[6] Please consult with a healthcare professional for medical advice and treatment.
[7] by F Rauch · 2015 · Cited by 108 — Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI.
[8] We provide additional evidence of P4HB as a cause of a specific form of OI-CCS and expand on response to treatment with bisphosphon
Recommended Medications
- Bisphosphonates
- pamidronate
💊 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
Based on the provided context, it appears that Cole-Carpenter syndrome has several differential diagnoses, which are conditions that may present with similar symptoms and need to be ruled out before a diagnosis can be made.
Some of the differential diagnoses for Cole-Carpenter syndrome include:
- Pfeiffer syndrome
- Osteogenesis imperfecta (OI)
- Osteoglophonic dwarfism
These conditions all have overlapping features with Cole-Carpenter syndrome, such as bone deformities and craniosynostosis. However, each condition has its own unique characteristics that can help distinguish it from Cole-Carpenter syndrome.
For example:
- Pfeiffer syndrome is characterized by craniosynostosis, facial abnormalities, and short stature [2].
- Osteogenesis imperfecta (OI) is a genetic disorder that affects the production of collagen, leading to fragile bones and frequent fractures [8].
- Osteoglophonic dwarfism is a rare condition characterized by short stature, skeletal deformities, and craniosynostosis [12].
It's worth noting that differential diagnoses can vary depending on the specific symptoms and characteristics of each individual case. A thorough medical evaluation and diagnostic testing are necessary to accurately diagnose Cole-Carpenter syndrome and rule out other potential conditions.
References:
[2] - May 1, 2013 — Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and ... [8] - by JA Caparros‐Martin · 2017 · Cited by 54 — Our data also indicate that CIP and FBS are conditions to be considered in the differential diagnosis of OI and suggest a positive role of SCN9A and NTRK1 in ... [12] - An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing ...
Additional Differential Diagnoses
- osteoporosis-pseudoglioma syndrome
- Osteoglophonic dwarfism
- osteogenesis imperfecta
- Pfeiffer syndrome
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.