Identifying the genetic causes of limb malformations
Whom we seek
We seek people with these isolated limb malformations:
- Arachnodactyly—Unusually long fingers compared to the length of the palm, also called achromachia.
- Brachydactyly—Shortness of the fingers and/or toes relative to the length of other long bones.
- Camptodactyly—A permanent flexion of one or more fingers.
- Clinodactyly—A bend of the fifth finger (the pinky finger) towards the fourth finger.
- Club foot—An inward twist and turn of the foot, also known as talipes equinovarus.
- Congenital radial head dislocation—A dislocation of the elbow that may impede proper bending and flexing.
- Congenital radioulnar synostosis—An abnormal development of the joints.
- Isolated limb malformation—A limb malformation that occurs in the absence of any other clinical problem. It can also be referred to as a non-syndromic limb malformation.
- Polydactyly—A presence of more than five fingers or toes on one hand or foot. The extra digit may consist of soft tissue, bone without joints, or a working digit.
- Reduction anomalies—Less than five fingers or toes on one hand or foot.
- Split hand and foot—An absence or one or more central digits of the hand or foot, also known as cleft hand or ectrodactyly.
- Syndactyly—A fusion or webbing of digits. It can involve bones or only soft tissue.
You’re likely eligible to participate in our study if:
- Your limb malformation is not associated with any other clinical problems, i.e., it is an isolated/non-syndromic limb malformation.
- You have a family history of limb malformations.
- Your mother had a normal pregnancy.
- Your limb malformation is symmetrical (on both the right and left hands or feet).