Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been ...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on autosomal recessive distal osteolysis syndrome is limited due to its rarity and the lack of systematic clinical studies. With few reported cases, comprehensive data collection and research efforts have been challenging. This condition affects a small population, which contributes to the scarcity of detailed clinical information and genetic insights.
The clinical features of autosomal recessive distal osteolysis syndrome include significant osteolysis (80-99%), short stature (80-99%), and mild intellectual disability (80-99%). Facial characteristics such as hypoplasia of the maxilla (80-99%), broad nasal tip (80-99%), and proptosis (80-99%) are also prevalent. Additionally, patients may exhibit abnormalities in dentition and short distal phalanges of the fingers, along with midface retrusion.
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Actionable guidance for navigating care for autosomal recessive distal osteolysis syndrome
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on autosomal recessive distal osteolysis syndrome is limited due to its rarity and the lack of systematic clinical studies. With few reported cases, comprehensive data collection and research efforts have been challenging. This condition affects a small population, which contributes to the scarcity of detailed clinical information and genetic insights.
The clinical features of autosomal recessive distal osteolysis syndrome include significant osteolysis (80-99%), short stature (80-99%), and mild intellectual disability (80-99%). Facial characteristics such as hypoplasia of the maxilla (80-99%), broad nasal tip (80-99%), and proptosis (80-99%) are also prevalent. Additionally, patients may exhibit abnormalities in dentition and short distal phalanges of the fingers, along with midface retrusion.
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Actionable guidance for navigating care for autosomal recessive distal osteolysis syndrome
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on autosomal recessive distal osteolysis syndrome is limited due to its rarity and the lack of systematic clinical studies. With few reported cases, comprehensive data collection and research efforts have been challenging. This condition affects a small population, which contributes to the scarcity of detailed clinical information and genetic insights.
The clinical features of autosomal recessive distal osteolysis syndrome include significant osteolysis (80-99%), short stature (80-99%), and mild intellectual disability (80-99%). Facial characteristics such as hypoplasia of the maxilla (80-99%), broad nasal tip (80-99%), and proptosis (80-99%) are also prevalent. Additionally, patients may exhibit abnormalities in dentition and short distal phalanges of the fingers, along with midface retrusion.
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Actionable guidance for navigating care for autosomal recessive distal osteolysis syndrome
To navigate your care, consider seeking a geneticist or a specialist in rare bone disorders who can provide insights into your condition. While there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, genetic counseling may be beneficial, especially for family planning and understanding potential risks for relatives. Keep an eye out for any future research studies or registries that may emerge as more is learned about this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
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.