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campomelic dysplasia
ICD-10 Codes
Related ICD-10:
Description
Campomelic Dysplasia: A Rare Genetic Disorder
Campomelic dysplasia (CD) is a rare and severe genetic disorder that affects the development of the skeleton, reproductive system, and other parts of the body [8]. It is characterized by distinctive facial features, bowing of the long bones, and other skeletal abnormalities [3].
Key Features:
- Bowing of the legs and long bones [2]
- Dislocated hips [2]
- Small lungs and chest [2]
- External genitalia that do not look clearly male or clearly female (ambiguous genitalia) [2]
- Dist
Additional Characteristics
- Bowing of the legs and long bones
- Dislocated hips
- Small lungs and chest
- External genitalia that do not look clearly male or clearly female (ambiguous genitalia)
- Distinctive facial features
Signs and Symptoms
Signs and Symptoms of Campomelic Dysplasia
Campomelic dysplasia is a rare congenital disorder characterized by multiple anomalies, including skeletal, respiratory, and reproductive system abnormalities. The signs and symptoms of this condition can vary in severity and presentation, but here are some common features:
- Skeletal Abnormalities: Bowed femur and tibia, short legs, dislocated hips, underdeveloped shoulder blades, and 11 pairs of ribs instead of 12 [1][3][8].
- Respiratory System: Small lungs and chest, laryngotracheomalacia, and respiratory distress [2][6].
- Reproductive System: External genitalia that do not look clearly male or female [5].
- Facial Features: Distinctive facial features, including a small chin, prominent eyes, flat face, and large head compared to body size [7][8].
- Other Symptoms: Short stature (height is less than that of most others of the same age), floppy airway (from weak muscles in the airway), and Pierre Robin sequence with cleft palate [9].
It's essential to note that each individual with campomelic dysplasia may exhibit a unique combination of these symptoms, and the severity can vary from person to person.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] (Not used) [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Dislocated hips
- Small lungs and chest
- Bowed femur and tibia
- Short legs
- Underdeveloped shoulder blades
- 11 pairs of ribs instead of 12
- Laryngotracheomalacia
- External genitalia that do not look clearly male or female
- Distinctive facial features (small chin, prominent eyes, flat face, large head compared to body size)
- Short stature (height is less than that of most others of the same age)
- Floppy airway (from weak muscles in the airway)
- Pierre Robin sequence with cleft palate
- obsolete respiratory distress
Diagnostic Tests
Campomelic dysplasia (CD) can be diagnosed through various tests, including:
- Physical exam: A physical examination by a healthcare provider to look for characteristic features such as bowed legs, short stature, and facial abnormalities [1].
- X-rays of the entire body: X-ray imaging to evaluate bone problems and confirm the diagnosis
Additional Diagnostic Tests
- Physical exam
- X-rays of the entire body
Treatment
Treatment for Campomelic Dysplasia
Campomelic dysplasia (CD) is a rare genetic disorder that affects the development of the skeleton, reproductive system, and face. While there is no cure for CD, treatment can help manage its symptoms and improve quality of life.
Symptomatic Treatment
Treatment for CD is primarily symptomatic, focusing on addressing specific issues such as:
- Cleft palate: Surgical repair to correct the cleft palate and improve feeding and speech.
- Clubfoot: Orthopedic correction to straighten the foot and ankle.
- Hip subluxations: Surgery to stabilize the hip joint.
- Cervical instability: Bracing or surgery to stabilize the neck.
- Kyphoscoliosis: Bracing or surgery to correct spinal curvature.
Other Medical Interventions
In addition to surgical corrections, other medical interventions may be necessary, such as:
- Respiratory support: Oxygen therapy and respiratory care to manage breathing difficulties.
- Pain management: Medications to control pain and discomfort.
- Nutritional support: Feeding tubes or nutritional supplements to ensure adequate nutrition.
Multidisciplinary Care
Treatment for CD often requires a multidisciplinary approach, involving specialists such as:
- Pediatric orthopedic surgeons
- Plastic surgeons
- Ear, nose, and throat (ENT) specialists
- Pulmonologists
- Dietitians and nutritionists
Personalized Treatment Plans
Each individual with CD requires a personalized treatment plan, taking into account their unique needs and circumstances. A team of healthcare professionals will work together to develop a comprehensive care plan, addressing both medical and emotional needs.
References:
[4] Our genetics doctors have the experience and training to diagnose even the rarest types of skeletal dysplasia, like campomelic dysplasia. Once we’ve identified your child’s condition, we work together to create a personalized treatment plan. Treatment is led by our world-renowned pediatric orthopedic experts, including William Mackenzie, MD. [6] There is no cure for campomelic dysplasia, but some of its orthopaedic characteristics — including cleft palate and clubfoot — are correctable. [8] Regular care from medical specialists can help babies with campomelic dysplasia get the care they need.
Recommended Medications
- Pain management: Medications to control pain and discomfort.
💊 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
Campomelic Dysplasia Differential Diagnoses
Campomelic dysplasia (CD) is a rare genetic disorder that affects the development of various body systems
Additional Differential Diagnoses
- atelosteogenesis
- osteogenesis imperfecta type 9
- adult hypophosphatasia
- infantile hypophosphatasia
- childhood hypophosphatasia
- SADDAN
- spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- hypophosphatasia
- achondroplasia
- N syndrome
- Edwards syndrome
- Patau syndrome
- Klinefelter syndrome
- Turner syndrome
Additional Information
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- Acampomelic Campomelic Dysplasia
- IAO_0000115
- An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
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- http://purl.obolibrary.org/obo/GENO_0000147
- relatedICD
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- t331949
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- OMIM mapping confirmed by DO. [SN].
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- campomelic dysplasia
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- http://www.w3.org/2002/07/owl#Class
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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.