Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, ...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for aphalangy-syndactyly-microcephaly syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity makes systematic clinical studies challenging, resulting in a lack of comprehensive data on the condition. Additionally, the genetic basis has not yet been identified, which further complicates the understanding and characterization of this syndrome.
The clinical features of aphalangy-syndactyly-microcephaly syndrome include partial distal aphalangia, which refers to the absence of some finger or toe bones, and syndactyly, where two or more fingers or toes are fused together. Additionally, affected individuals may exhibit microcephaly, which is a smaller than average head size, and mild intellectual disability. Kyphoscoliosis, a curvature of the spine, may also be present in 5-29% of cases.
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
Actionable guidance for navigating care for aphalangy-syndactyly-microcephaly syndrome
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for aphalangy-syndactyly-microcephaly syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity makes systematic clinical studies challenging, resulting in a lack of comprehensive data on the condition. Additionally, the genetic basis has not yet been identified, which further complicates the understanding and characterization of this syndrome.
The clinical features of aphalangy-syndactyly-microcephaly syndrome include partial distal aphalangia, which refers to the absence of some finger or toe bones, and syndactyly, where two or more fingers or toes are fused together. Additionally, affected individuals may exhibit microcephaly, which is a smaller than average head size, and mild intellectual disability. Kyphoscoliosis, a curvature of the spine, may also be present in 5-29% of cases.
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
Actionable guidance for navigating care for aphalangy-syndactyly-microcephaly syndrome
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for aphalangy-syndactyly-microcephaly syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity makes systematic clinical studies challenging, resulting in a lack of comprehensive data on the condition. Additionally, the genetic basis has not yet been identified, which further complicates the understanding and characterization of this syndrome.
The clinical features of aphalangy-syndactyly-microcephaly syndrome include partial distal aphalangia, which refers to the absence of some finger or toe bones, and syndactyly, where two or more fingers or toes are fused together. Additionally, affected individuals may exhibit microcephaly, which is a smaller than average head size, and mild intellectual disability. Kyphoscoliosis, a curvature of the spine, may also be present in 5-29% of cases.
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
Actionable guidance for navigating care for aphalangy-syndactyly-microcephaly syndrome
To navigate aphalangy-syndactyly-microcephaly syndrome, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into the condition and potential management strategies. 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 additional support and information. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning options.
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.
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