Traits

Traits linked to KDF1

keratinocyte differentiation factor 1

The Human Phenotype Ontology links 30 traits to KDF1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Boxer's nasal deformity	Always
Limited hair on end of eyebrow	Always
Abnormal dentition	Very often (80–99%)
Abnormality of dental shape	Very often (80–99%)
Early loss of baby teeth	Very often (80–99%)
Failure of development of between one and six teeth	Very often (80–99%)
Short philtrum	Often (30–79%)
Born with teeth	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Hair loss on scalp from scarring condition	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Always
Orthokeratosis	Always
Underdeveloped sweat glands	Always
Chicken skin	Very often (80–99%)
Poor nail formation	Very often (80–99%)
Sparse body hair	Very often (80–99%)
Sparse hair	Very often (80–99%)
Thin skin	Very often (80–99%)
Abnormal fingernails	Often (30–79%)
Knuckle pad	Often (30–79%)
Thickened, discolored skin under nail	Often (30–79%)
Abnormal skin pigmentation	Sometimes (5–29%)
Trichorrhexis nodosa	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acne inversa	Always
Eczema	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Palmar hyperlinearity	Always

Laboratory abnormality

Trait	How often it is seen
Malignant hyperthermia	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KDF1 and how often each is seen. Find out more at hpo.jax.org.

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