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Trait

Radial ray deficiency

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.

HPO HP:0006433

Summary

Also called
Abnormal radial ray morphology, Deformity of radial ray, Dysplastic radii, Radial club hand, Radial dysplasia, Radial longitudinal deficiency, Radial ray anomaly, Radial ray deformity
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

8 genes linked to Radial ray deficiency

Changes in these genes cause rare conditions in which Radial ray deficiency is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
FLVCR1FLVCR choline and heme transporter 1AlwaysIn 1 condition
RAD51RAD51 recombinaseAlwaysIn 1 condition
RFWD3ring finger and WD repeat domain 3AlwaysIn 1 condition
FAAP100FA core complex associated protein 100Often (30–79%)In 1 condition
SALL4spalt like transcription factor 4Often (30–79%)In 1 condition
GLI3GLI family zinc finger 3Sometimes (5–29%)In 1 condition
LEF1lymphoid enhancer binding factor 1Sometimes (5–29%)In 1 condition
SAMD9sterile alpha motif domain containing 9Sometimes (5–29%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal morphology of the radius

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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