Orofaciodigital Syndrome X (OFD10)

Alias:

Orofaciodigital Syndrome with Fibular Aplasia

Ofd10

Oral-Facial-Digital Syndrome Type 10

Orofaciodigital Syndrome Type 10

Figuera Syndrome

Oral-Facial-Digital Syndrome with Fibular Aplasia

Oral-Facial-Digital Syndrome, Type X

Ofds X

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome X, also known as orofaciodigital syndrome with fibular aplasia, is related to cleft palate, isolated and fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly. An important gene associated with Orofaciodigital Syndrome X is RFLNB (Refilin B). Affiliated tissues include bone, and related phenotypes are short neck and depressed nasal bridge

Related ID：

MALACARDS：ORF041

OMIM：165590

MESH：C563491