Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for brachyolmia type 1, Hobaek type, is limited primarily due to its rarity and the lack of systematic clinical studies. Conditions like this often affect fewer than a few hundred individuals worldwide, making comprehensive research challenging. Additionally, the absence of identified genes and a clear clinical definition further complicates the understanding and characterization of this condition.
The key clinical features of brachyolmia type 1, Hobaek type, include disproportionate short-trunk short stature, which is always present, along with platyspondyly, intervertebral space narrowing, and irregular vertebral endplates, all of which are consistently observed. Additionally, back pain, lumbar hypolordosis, kyphosis, and thoracic scoliosis may occur in 30-79% of individuals, indicating variability in symptom presentation.
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Actionable guidance for navigating care for brachyolmia type 1, Hobaek type
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for brachyolmia type 1, Hobaek type, is limited primarily due to its rarity and the lack of systematic clinical studies. Conditions like this often affect fewer than a few hundred individuals worldwide, making comprehensive research challenging. Additionally, the absence of identified genes and a clear clinical definition further complicates the understanding and characterization of this condition.
The key clinical features of brachyolmia type 1, Hobaek type, include disproportionate short-trunk short stature, which is always present, along with platyspondyly, intervertebral space narrowing, and irregular vertebral endplates, all of which are consistently observed. Additionally, back pain, lumbar hypolordosis, kyphosis, and thoracic scoliosis may occur in 30-79% of individuals, indicating variability in symptom presentation.
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Actionable guidance for navigating care for brachyolmia type 1, Hobaek type
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for brachyolmia type 1, Hobaek type, is limited primarily due to its rarity and the lack of systematic clinical studies. Conditions like this often affect fewer than a few hundred individuals worldwide, making comprehensive research challenging. Additionally, the absence of identified genes and a clear clinical definition further complicates the understanding and characterization of this condition.
The key clinical features of brachyolmia type 1, Hobaek type, include disproportionate short-trunk short stature, which is always present, along with platyspondyly, intervertebral space narrowing, and irregular vertebral endplates, all of which are consistently observed. Additionally, back pain, lumbar hypolordosis, kyphosis, and thoracic scoliosis may occur in 30-79% of individuals, indicating variability in symptom presentation.
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Actionable guidance for navigating care for brachyolmia type 1, Hobaek type
To navigate brachyolmia type 1, Hobaek type, consider consulting with a geneticist or a specialist in skeletal dysplasias who can provide insights into your condition. While there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Engaging in genetic counseling may also be beneficial, even in the absence of identified genes, to discuss family planning and potential risks.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.