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Carpenter syndrome
ICD-10 Codes
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Description
Carpenter Syndrome: A Rare Genetic Condition
Carpenter syndrome, also known as Cerebro-Oculo-Facio-Skeletal (COFS) syndrome, is a rare genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other physical anomalies.
Key Features:
- Premature Fusion of Skull Bones: The cranial sutures fuse too early, affecting brain development and facial features [2][3].
- Abnormalities of Fingers and Toes: Individuals with Carpenter syndrome often have syndactyly (webbed fingers or toes) and polydactyly (extra fingers or toes) [9].
- Misshapen Skull: The skull can be misshapen due to the early fusion of cranial sutures, leading to a conical shape (acrocephaly) [3][6].
Other Symptoms:
- Craniofacial Malformations: Carpenter syndrome is associated with various craniofacial malformations, including an unusually small jaw and facial features that are not typical for the individual's age [7].
- Obesity: Some individuals with Carpenter syndrome may experience obesity due to a combination of genetic factors and other health conditions [9].
Age of Onset:
Carpenter syndrome is typically evident at or shortly after birth, making early diagnosis crucial for providing proper care and management [3][7].
References:
- [1] 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 ...
- [2] Jul 5, 2022 — Carpenter syndrome is a rare genetic condition. The skull bones fuse too early, affecting brain development and facial features.
- [3] Carpenter syndrome is typically evident at or shortly after birth. Due to craniosynostosis, the top of the head may appear unusually conical (acrocephaly) or ...
- [4] Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, ...
- [5] Carpenter syndrome is characterized by abnormal fusion of the cranial sutures. Sutures are specialized joints between the plates of bone that make up the skull.
- [6] In Carpenter syndrome, one or more of the sutures can fuse too early, causing the skull to be misshapen. As well as the skull and face, the hands and feet are ...
- [7] Carpenter syndrome is a rare craniofacial genetic condition apparent at birth or shortly thereafter. Symptoms will vary widely among individuals from mild ...
- [8] May 12, 2024 — Carpenter syndrome is an extremely rare genetic disorder characterized by abnormalities of the skull, fingers, and toes. It is caused by a ...
- [9] an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.
Additional Characteristics
- Obesity
- Premature Fusion of Skull Bones
- Abnormalities of Fingers and Toes
- Misshapen Skull
- Craniofacial Malformations
Signs and Symptoms
Carpenter Syndrome Signs and Symptoms
Carpenter syndrome, also known as MIM #201240, is a rare genetic disorder characterized by a range of physical and developmental abnormalities. The signs and symptoms of Carpenter syndrome can vary widely among individuals, even within the same family.
Common Features:
- Misshapen Head: Short from front to back, long and narrow from top to bottom
- Fused or Webbed Fingers and Toes: Extra or unusually short fingers and toes
- Facial Deformities: Abnormally formed eye sockets, flat nasal bridge, small upper or lower jaw
- Misshapen Ears: Low-set ears
Additional Symptoms:
- Dental abnormalities
- Vision problems
- Hearing loss
- Heart defects
- Genital abnormalities (more common in males)
- Obesity
- Various skeletal abnormalities
- Intellectual disability (affecting 63-75% of cases)
Key Features:
- Premature fusion of cranial sutures between certain skull bones, affecting the shape of the head (craniosynostosis)
- Similar signs and symptoms to Greig cephalopolysyndactyly syndrome
Inheritance Pattern: Carpenter syndrome is typically inherited as an autosomal recessive condition, meaning that both biological parents must be carriers of the mutation for a child to inherit the disorder.
These physical and developmental abnormalities can vary significantly from case to case and between families in which the disorder runs. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable.
References: [1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12]
Additional Symptoms
- Hearing loss
- Intellectual disability
- Dental abnormalities
- Heart defects
- Obesity
- Vision problems
- Genital abnormalities
- Misshapen Head
- Fused or Webbed Fingers and Toes
- Facial Deformities
- Misshapen Ears
- Various skeletal abnormalities
Diagnostic Tests
Carpenter syndrome can be diagnosed through various diagnostic tests, which are essential for an accurate diagnosis and to rule out other conditions that may have similar symptoms.
- Genetic testing: Molecular genetic screening of the RAB23 or MEGF8 gene is necessary to confirm the diagnosis of Carpenter syndrome [1]. This test uses a sample of blood, hair, skin, or other tissue.
- Imaging tests: CT scans and MRI can help diagnose the syndrome by showing abnormalities in the skull bones and facial features [6].
- Blood test: A blood test can check for the presence of the RAB23 gene mutation to confirm the diagnosis [7].
- Other diagnostic tests: Ultrasound, fetoscopy, and other specialized tests may be used to diagnose Carpenter syndrome before birth (prenatally) or to rule out other conditions that have similar symptoms.
It's essential to note that genetic testing is often required for an accurate diagnosis of Carpenter syndrome, as the overlapping features with other conditions like Greig cephalopolysyndactyly syndrome can cause misdiagnosis [3][4].
References: [1] - Context 1 [2] - Context 2 [3] - Context 4 [6] - Context 6 [7] - Context 7
Additional Diagnostic Tests
- Ultrasound
- Genetic testing
- Imaging tests
- Blood test
- Fetoscopy
Treatment
Treatment Options for Carpenter Syndrome
Carpenter syndrome, a rare genetic disorder, requires multidisciplinary management and treatment to address its various symptoms. While there are no specific "drugs" that can cure the condition, treatment is tailored to each individual's unique characteristics.
- Surgery: Most affected children undergo surgery between 3 and 9 months to open the fused skull bones (craniosynostosis), which can interfere with normal growth of the brain and skull [5].
- Congenital heart problems: Congenital heart problems may also require therapy with specific drugs, surgical treatment, and/or other treatments. The extent and site of congenital heart defects vary among individuals [10].
- Chronic kidney disease (CKD): A recent case report highlighted an unusual association
Recommended Medications
- Surgery
- specific drugs
💊 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
Carpenter syndrome, also known as Craniofacial Dysmorphism Syndrome Type 2 (CRPTS), is a rare genetic disorder characterized by craniosynostosis and polysyndactyly. When diagnosing Carpenter syndrome, it's essential to consider differential diagnoses that may present with similar symptoms.
- Apert syndrome: This condition also involves premature fusion of the skull bones (craniosynostosis) and can be distinguished from Carpenter syndrome by the presence of additional features such as midfacial hypoplasia and a more severe degree of craniosynostosis [3].
- Bardet-Biedl syndrome: A genetic disorder that affects multiple systems in the body, including the eyes, kidneys, and reproductive organs. While it can present with similar physical characteristics to Carpenter syndrome, such as short stature and intellectual disability, it is typically associated with additional features like polydactyly and obesity [4].
- Sanjad-Sakati syndrome: A rare genetic disorder characterized by craniosynostosis, short stature, and a distinctive facial appearance. It can be distinguished from Carpenter syndrome by the presence of additional features such as microcephaly and a more severe degree of intellectual disability [5].
It's worth noting that differential diagnoses for Carpenter syndrome may also include other syndromes not listed here, and a comprehensive diagnosis should always be made by a qualified medical professional.
References: [1] Mar 6, 2018 - Differential diagnoses include Apert syndrome, Bardet-Biedl syndrome, and Sanjad-Sakati syndrome (Gorlin et al. 2001). [2] Sep 26, 2024 - Craniosynostosis consists of premature fusion of 1 or more cranial sutures, often resulting in an abnormal head shape. [3] by LM Watts · 2024 · Cited by 1 — Carpenter syndrome (CRPTS) is an autosomal recessive disorder characterised by the core features of craniosynostosis and polysyndactyly of the ... [4] Aug 16, 2022 — Carpenter syndrome (OMIM 201000): This condition is autosomal recessive; patients present with a peculiar face, absence of osseous fusion of ... [5] by T Casteleyn · 2022 · Cited by 3 — Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other ...
Additional Information
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