4 free views remaining today
fibrochondrogenesis
ICD-10 Codes
Related ICD-10:
Description
Fibrochondrogenesis is a rare and severe genetic disorder that affects the development of cartilage and bones in the body.
Characteristics of Fibrochondrogenesis
- Short stature: Affected individuals have short stature, also known as dwarfism [1].
- Skeletal abnormalities: The condition is characterized by shortened long bones in the arms and legs, as well as other skeletal abnormalities [2].
- Flat midface: Individuals with fibrochondrogenesis often have a flat midface, small nose, and other distinctive facial features [5][6].
- Short ribs: The condition is also associated with short ribs that have broad metaphyses (the ends of the bones) [6].
- Narrow chest: Affected infants often have a very narrow chest, which can prevent the lungs from developing normally [4][9].
Type and Severity
Fibrochondrogenesis is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally. The condition is also known to be neonatally lethal, meaning that affected infants do not survive beyond birth [1][7].
Causes and Effects
The exact cause of fibrochondrogenesis is unknown, but it is believed to result from mutations in genes related to cartilage development. Any dysfunction in the growth of cartilage can lead to this severe skeletal dysplasia [10].
Additional Characteristics
- Narrow chest
- Short stature
- Skeletal abnormalities
- Short ribs
- Flat midface
Signs and Symptoms
Fibrochondrogenesis is a rare genetic disorder characterized by severe skeletal abnormalities, which can lead to various signs and symptoms.
Physical Characteristics
- Short stature (dwarfism) [5]
- Abnormal bone formation, including shortened long bones in the arms and legs [5]
- Narrow chest, which can prevent proper lung expansion [8]
Facial Features
- Prominent eyes
- Low-set ears
- Small mouth with a long upper lip [7]
Other Symptoms
- Vision problems, including severe myopia (nearsightedness) [2]
- Abnormal fibrous development of cartilage and related tissues [3]
- Fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage) [6]
- Flared, widened long bone metaphyses (the wider portion of the bones) [6]
Severe Complications
- Stillbirth or neonatal death due to severe skeletal abnormalities [4]
- Respiratory problems due to narrow chest and abnormal lung development [8]
It's essential to note that fibrochondrogenesis is a rare and severe disorder, and these symptoms can vary in severity from one individual to another.
Additional Symptoms
- Low-set ears
- Prominent eyes
- Abnormal bone formation, including shortened long bones in the arms and legs
- Narrow chest, which can prevent proper lung expansion
- Small mouth with a long upper lip
- Vision problems, including severe myopia (nearsightedness)
- Abnormal fibrous development of cartilage and related tissues
- Fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage)
- Flared, widened long bone metaphyses (the wider portion of the bones)
- short stature
Diagnostic Tests
Diagnostic Tests for Fibrochondrogenesis
Fibrochondrogenesis is a rare and severe genetic disorder that affects bone growth, making it essential to diagnose the condition accurately. Diagnostic tests play a crucial role in identifying this condition.
- Genetic Analysis: Genetic analysis, specifically sequence analysis of the entire coding region of the COL11A2 gene, can provide a molecular diagnosis of fibrochondrogenesis (1). This test is recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis (8).
- CPT Codes: The CPT code for fibrochondrogenesis 1 is 81479, which indicates genetic analysis to provide a molecular diagnosis of this disorder. The expected turnaround time for this test is typically 2-4 weeks from receipt of a sample in the laboratory (4).
Other Diagnostic Tests
While specific diagnostic tests are not mentioned in the search results, it's essential to note that healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis (13). Clinical trials determine if a new test or treatment for a disease is effective and may be relevant in this context.
References
- [1] Fibrochondrogenesis 1 Summary
- [4] Test Name: Fibrochondrogenesis 1 CPT Codes
- [8] Genetic analysis to provide a molecular diagnosis of this disorder.
- [13] Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis.
Additional Diagnostic Tests
- Genetic Analysis
- CPT Codes
Treatment
Current Drug Treatment Options for Fibrochondrogenesis
Fibrochondrogenesis, a rare and severe disorder of bone growth, currently has no cure. However, treatment focuses on managing symptoms and improving quality of life through supportive care.
- Meclizine: An alternative to CNP-based therapy involves the repositioned use of meclizine, a FDA-approved drug initially used for motion sickness [6]. This approach is still being explored.
- Supportive Care: Treatment primarily focuses on managing symptoms and improving quality of life through supportive care. This may include pain management, physical therapy, and other interventions to improve the patient's overall well-being.
It's essential to note that fibrochondrogenesis is a rare disorder with only 11 reported cases [2]. As such, treatment options are limited, and more research is needed to develop effective therapies for this condition.
References
- [6] MD Briggs · 2015 · Cited by 40 — An alternative to CNP-based therapy has involved the repositioned use of a FDA-approved drug (meclizine used for treatment of motion sickness) [96].
- [2] Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported.
- [5] There is currently no cure, and treatment focuses on managing symptoms and improving quality of life through supportive care. The disorder is caused by ...
Recommended Medications
- Supportive Care
- Meclizine
💊 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
Fibrochondrogenesis, a rare skeletal dysplasia, can be challenging to diagnose prenatally or postnatally due to its distinct characteristics and overlapping features with other disorders. To establish an accurate diagnosis, it is essential to consider the differential diagnoses that may mimic fibrochondrogenesis.
Key Features of Fibrochondrogenesis:
- Short stature (dwarfism)
- Skeletal abnormalities
- Distinct facial features (flat midface, flat small nose, anteverted nares)
- Severe pear-shaped platyspondyly
- Narrow chest
Differential Diagnoses:
- Achondrogenesis: characterized by absent or abnormal spine ossification [8].
- Atelosteogenesis type II: features normally ossified skull, sacrum, and vertebral bodies, but with short limbs and deficient ossification of the vertebral bodies [6].
- Fibrodysplasia ossificans progressiva (FOP): a rare genetic disorder that leads to the replacement of muscles, tendons, and other soft tissues with bone [not mentioned in context, but relevant for differential diagnosis].
Key Considerations:
- Prenatal diagnosis is often limited to distinguishing between lethal and non-lethal conditions.
- Postnatal diagnosis relies on clinical evaluation, radiographic findings, and genetic testing.
References:
[1] Apr 1, 2016 - Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones [1]. [3] Disease definition. A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, ... [3] [6] by NG Kundaragi · 2012 · Cited by 1 — A prenatal diagnosis of fibrochondrogenesis can be made if a fetus has short limbs and deficient ossification of the vertebral bodies [Table 1]. The major features are similar to those mentioned in [8]. [9] Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally [9].
Please note that this answer is based on the provided context and might not be exhaustive or up-to-date with the latest research findings.
Additional Differential Diagnoses
- Atelosteogenesis type II
- achondrogenesis
- fibrodysplasia ossificans progressiva
Additional Information
- relatedICD
- http://example.org/icd10/Q76.7
- core#notation
- DOID:0060465
- rdf-schema#label
- fibrochondrogenesis
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0080673
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-11-04T16:24:41Z
- oboInOwl#id
- DOID:0060465
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- UMLS_CUI:C0265282
- IAO_0000115
- An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1491
- owl#annotatedSource
- t341125
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
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.