/terminal osseous dysplasia-pigmentary defects syndrome

terminal osseous dysplasia-pigmentary defects syndrome

Rare Disease

MONDO:0010279

Also Known As

terminal osseous dysplasia, X-linked dominantOdpdOdpf syndromeTODosseous dysplasia, digital, with Facial pigmentary defects and multiple frenulaterminal osseous dysplasiaterminal osseous dysplasia and pigmentary defects

Definition

A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

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Comprehensive, easy-to-understand information about this condition

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Associated Genes

FLNA ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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terminal osseous dysplasia-pigmentary defects syndrome

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases