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Miles-Carpenter syndrome
ICD-10 Codes
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Description
Miles-Carpenter syndrome, also known as Carpenter syndrome, is a rare genetic disorder that affects intellectual and physical development.
- Intellectual Disability: Individuals with Miles-Carpenter syndrome typically have severe intellectual disability, which means they may experience significant difficulties with cognitive functions such as learning, problem-solving, and communication [1][2].
- Physical Characteristics: The condition is characterized by microcephaly (small head size), exotropia (eyes that are turned outward), distal muscle wasting (muscle weakness in the hands and feet), and low digital arches (flat or low-arched feet) [3][4].
- Premature Fusion of Skull Bones: Carpenter syndrome is also associated with premature fusion of certain skull bones, a condition known as craniosynostosis. This can lead to an abnormally shaped head, often appearing conical in shape [5].
It's essential to note that Miles-Carpenter syndrome is a rare and complex condition, and its symptoms may vary from person to person.
References: [1] - Context result 3 [2] - Context result 6 [3] - Context result 4 [4] - Context result 7 [5] - Context result 2
Additional Characteristics
- severe intellectual disability
- craniosynostosis
- microcephaly (small head size)
- exotropia (eyes that are turned outward)
- distal muscle wasting (muscle weakness in the hands and feet)
- low digital arches (flat or low-arched feet)
- premature fusion of certain skull bones
Signs and Symptoms
Miles-Carpenter syndrome, also known as Carpenter syndrome, is a rare genetic disorder characterized by various physical and developmental abnormalities.
Physical Abnormalities
- Premature fusion of certain skull bones (craniosynostosis) [1]
- Unusually short fingers and toes (brachydactyly) [2]
- Partial fusion of the soft tissues (cutaneous syndactyly) between certain digits [2]
Developmental and Intellectual Abnormalities
- Intellectual disability, ranging from mild to severe [3]
- Delayed speech and language development [8]
- Global developmental delay [8]
- Severe intellectual deficit [7]
Other Symptoms
- Difficulty swallowing (dysphagia) at least early in life [6]
- Respiratory complications at least early in life [6]
- Epilepsy [9]
- Cortical visual impairment [9]
- Autism [9]
- Gastrointestinal problems (GI problems) [9]
- Vascular and cardiac problems, reported in males [9]
Additional Signs
- Dental abnormalities
- Vision problems
- Hearing loss
- Heart defects
- Genital abnormalities
- Obesity
- Various skeletal abnormalities
It's essential to note that the severity and presence of these symptoms can vary significantly among individuals with Miles-Carpenter syndrome.
Additional Symptoms
- Delayed speech and language development
- Global developmental delay
- Hearing loss
- Difficulty swallowing (dysphagia)
- Dental abnormalities
- Autism
- Unusually short fingers and toes (brachydactyly)
- Heart defects
- Epilepsy
- Premature fusion of certain skull bones (craniosynostosis)
- Obesity
- Vision problems
- Genital abnormalities
- Various skeletal abnormalities
- Partial fusion of the soft tissues (cutaneous syndactyly) between certain digits
- Intellectual disability, ranging from mild to severe
- Severe intellectual deficit
- Respiratory complications
- Cortical visual impairment
- Gastrointestinal problems (GI problems)
Diagnostic Tests
Miles-Carpenter syndrome, also known as X-linked mental retardation, Miles-Carpenter type, is a rare genetic disorder characterized by severe intellectual deficit, microcephaly, exotropia, and low digital arches. Diagnostic tests for this condition are crucial for confirming the diagnosis.
Genetic Testing Molecular genetic testing of RAB23 and MEGF8 genes can confirm a suspected clinical diagnosis of Miles-Carpenter syndrome [12]. This test can detect mutations in these genes, which are associated with the disorder.
Clinical Features The diagnostic criteria for Miles-Carpenter syndrome include severe intellectual deficit, microcephaly (small head size), exotropia (eyes that turn outward), and low digital arches (short fingers) [13].
Home Medical Tests While not a definitive diagnostic tool, home medical tests may be relevant to Miles-Carpenter X-linked mental retardation syndrome. These include concentration tests, which can help assess cognitive function [15].
It's essential to consult with a qualified healthcare professional or a genetic counselor for an accurate diagnosis and guidance on the most suitable diagnostic tests.
References: [12] Molecular genetic testing of RAB23 and MEGF8 can confirm a suspected clinical diagnosis of Carpenter syndrome. [13] Miles-Carpenter syndrome is an X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting, ... [15] Dec 31, 2014 — Diagnosis. These home medical tests may be relevant to Miles-Carpenter X-linked mental retardation syndrome: * Concentration -- Home Testing ...
Additional Diagnostic Tests
- Molecular genetic testing of RAB23 and MEGF8 genes
- Home medical tests (concentration test)
Treatment
Miles-Carpenter syndrome, also known as ZC4H2 deficiency or Carpenter syndrome, is a rare genetic disorder that affects the development and function of various bodily systems.
Current Treatment Options
Unfortunately, there is currently no cure for Miles-Carpenter syndrome. However, treatment aims to manage symptoms and improve quality of life. The following are some of the current treatment options:
- Skeletal abnormalities: Treatment focuses on correcting skeletal abnormalities through surgery to improve appearance and reduce disability [2].
- Supportive therapies: Supportive therapies such as physical therapy, occupational therapy, and speech therapy may be necessary to help manage symptoms and improve daily functioning [9].
- Medical interventions: Medical interventions may be required to address specific health issues related to the syndrome, such as respiratory problems or seizures [9].
No Specific Drug Treatment
It's essential to note that there is no specific drug treatment for Miles-Carpenter syndrome. The focus of treatment is on managing symptoms and improving quality of life through a combination of supportive therapies and medical interventions.
Research and Future Directions
While there is currently no cure or effective treatment for Miles-Carpenter syndrome, research continues to uncover the genetic causes of the disorder and explore potential therapeutic targets [7]. Further studies are needed to develop effective treatments and improve outcomes for individuals affected by this rare condition.
References:
[1] Not provided (search results did not contain relevant information on drug treatment)
[2] 2. Jul 5, 2022 — There's no cure for Carpenter syndrome. Treatment aims to: Correct skeletal abnormalities to improve appearance and reduce disability.
[3-10] Provided in the context block
Recommended Medications
- Surgery
- Physical therapy
- Occupational therapy
- Speech therapy
💊 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
Miles-Carpenter syndrome, also known as Carpenter syndrome, is a rare genetic disorder characterized by craniosynostosis, limb abnormalities, and other systemic features.
When considering the differential diagnosis for Miles-Carpenter syndrome, several conditions should be taken into account:
- Arthrogryposis Multiplex Congenita (AMC): AMC is a condition that affects multiple joints and can cause muscle weakness and stiffness. It is often associated with genetic mutations and can present with similar features to Carpenter syndrome [5][8].
- Wieacker-Wolff syndrome: Wieacker-Wolff syndrome is an X-linked form of AMC that is associated with broad neurodevelopmental impairment. It shares some similarities with Carpenter syndrome, including limb abnormalities and developmental delays [6].
- ZARD 1: ZARD 1 is a rare genetic condition that affects the central and peripheral nervous systems. While it has distinct features, it can be considered in the differential diagnosis for Carpenter syndrome due to its overlapping symptoms [3].
It's essential to note that Miles-Carpenter syndrome is a unique condition with specific characteristics, such as craniosynostosis and limb abnormalities. A comprehensive diagnostic evaluation, including genetic testing and clinical assessment, is necessary to accurately diagnose this condition.
References:
[1] - Not applicable (search results did not contain relevant information on Miles-Carpenter syndrome) [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [8] - Context result 8
Additional Differential Diagnoses
Additional Information
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