Trait
Mitten deformity
Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
Summary
- Also called
- Pseudosyndactyly
- Body system
- Abnormality of limbs
Reference genomeGRCh38hg38
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Get my Genome Test9 genes linked to Mitten deformity
Changes in these genes cause rare conditions in which Mitten deformity 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 |
|---|---|---|
| DSPdesmoplakin | Always | In 1 condition |
| KRT5keratin 5 | Always | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Very often (80–99%) | In 6 conditions |
| MMP1matrix metallopeptidase 1 | Very often (80–99%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Sometimes (5–29%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| COL17A1collagen type XVII alpha 1 chain | Rarely (1–4%) | In 2 conditions |
| ITGB4integrin subunit beta 4 | 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.
Broader traits
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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