fibrochondrogenesis 2

Fibrochondrogenesis: A Rare Autosomal Recessive Form of Osteochondrodysplasia

Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues. It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of connective tissue).

Key Features:

• Autosomal recessive inheritance pattern
• Abnormal fibrous development of cartilage and related tissues
• Lethal rhizomelic form of dwarfism
• Skeletal dysplasia and fibroblastic dysplasia

This condition is characterized by a range of severe skeletal abnormalities, including short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends. The face is also affected, with features such as protuberant eyes, flat midface, flat small nose with anteverted nares, and a small mouth with long upper lip.

References:

• [1] Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues. (Source: #2)
• [2] It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia. (Source: #2)
• [3] The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. (Source: #13)

Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.

Common Signs and Symptoms:

• Short stature (dwarfism) [5]
• Skeletal abnormalities, including:
  • Shortened long bones in the arms and legs [5]
  • Narrow chest with wide and short ribs [4]
  • Flat vertebrae (platyspondyly) [4]
  • Abnormal curvature of the spine [4]
• Other signs may include a prominent round abdomen and flat midface [9]

Radiological Features:

• Severe dumbbell deformities of the long bones, similar to those in Kniest dysplasia [8]
• Platyspondyly is more severe than in other skeletal dysplasias [8]

These signs and symptoms are a result of the abnormal fibrous development of cartilage and related tissues, leading to the characteristic features of fibrochondrogenesis.

References: [4] - Other signs of the disease include a narrow chest with wide and short ribs prominent round abdomen, flat vertebrae (platyspondyly), an abnormal curvature of the spine. [5] - Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones in the arms and legs. [8] - Radiologically, severe dumbbell deformities of the long bones are identical to those in Kniest dysplasia. However, platyspondyly is more severe, ... [9] - Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies ...

Based on the provided context, here are the diagnostic tests for fibrochondrogenesis 2:

• Genetic testing: Diagnosis of Fibrochondrogenesis 2 is done through genetic testing [6][7]. The COL11A2 gene is associated with this disorder.
• NGS Genetic Test: A specific NGS (Next-Generation Sequencing) test, such as the Fibrochondrogenesis 2 NGS Genetic Test offered by Intergen or DNA Labs India, can be used to diagnose this condition [6][7].
• Clinical Genetic Test: Clinical genetic testing is also available for conditions like fibrochondrogenesis 2 [5].

It's worth noting that establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis, including referrals for diagnostic tests [11].

Based on the provided context, it appears that there is limited information available on the drug treatment of fibrochondrogenesis.

However, according to search result [3], a study by MD Briggs in 2015 mentions that intravenous administration of a certain medication may be an effective clinically approved treatment for a related condition caused by a constitutively activating mutation. This suggests that there might be some potential treatments available, but more research is needed to confirm their effectiveness specifically for fibrochondrogenesis.

Additionally, search result [6] mentions carbamazepine as a therapy being evaluated for metaphyseal chondrodysplasia, type Schmid in mice, which is another rare genetic disorder affecting bones and joints. However, it's essential to note that this information is not directly related to fibrochondrogenesis.

It's also worth noting that search result [4] emphasizes the importance of consulting with a healthcare professional for medical advice and treatment, as any information provided should not be used as a basis for diagnosis or treatment.

In summary, while there might be some potential treatments available for related conditions, more research is needed to confirm their effectiveness specifically for fibrochondrogenesis. It's essential to consult with a qualified specialist for accurate and personalized medical advice.

References: [3] by MD Briggs · 2015 · Cited by 40 — [4] The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [6] by SR Lamandé · 2020 · Cited by 79 —

Differential Diagnosis of Fibrochondrogenesis

Fibrochondrogenesis, a rare skeletal dysplasia, can be challenging to diagnose due to its distinct clinical and radiological features. When considering differential diagnoses for fibrochondrogenesis, the following conditions should be taken into account:

• Type I Thanatophoric Dysplasia: This condition is characterized by severe shortening of the long bones, narrow chest, and a distinctive "flared" appearance of the femora [9]. While curvature of the femora may suggest type 1 thanatophoric dysplasia, fibrochondrogenesis should be considered in cases with distinct facial features and platyspondyly.
• Type II Collagenopathies: These conditions are associated with mutations in the COL2A1 gene and can present with similar radiological findings to fibrochondrogenesis [7]. However, type II collagenopathies typically involve more pronounced epiphyseal dysplasia and a distinct "honeycomb" appearance of the vertebral bodies.
• Rhizo-mesomelic Dysplasias: These conditions are characterized by shortening of the limbs and can present with similar radiological findings to fibrochondrogenesis [3]. However, rhizo-mesomelic dysplasias typically involve more pronounced limb shortening and a distinct "cubitus valgus" deformity.

Key Features for Differential Diagnosis

When considering differential diagnoses for fibrochondrogenesis, the following key features should be taken into account:

• Distinct Facial Features: Fibrochondrogenesis is characterized by flat midface, small nose, anteverted nares, and a distinctive facial appearance [3].
• Platyspondyly: Fibrochondrogenesis is associated with severe pear-shaped platyspondyly, which can be seen on radiological imaging [2, 6].
• Shortened Long Bones: Fibrochondrogenesis is characterized by shortening of the long bones, particularly in the limbs [1].

References

[1] Apr 1, 2016 — Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones.

[2] Feb 18, 2012 — We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal findings.

[3] Disease definition. A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, ...

[6] by NG Kundaragi · 2012 · Cited by 1 — We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal findings.

[7] by A Handa · 2021 · Cited by 9 — The authors describe the diagnostic pathways to type II and type XI collagenopathies and the associated differential diagnoses. In addition, ...

[9] Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally.