Trait
Phocomelia
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test7 genes linked to Phocomelia
Changes in these genes cause rare conditions in which Phocomelia 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Always | In 2 conditions |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Sometimes (5–29%) | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Sometimes (5–29%) | In 1 condition |
| TBX5T-box transcription factor 5 | Sometimes (5–29%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Rarely (1–4%) | 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.
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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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