Traits

Traits linked to PTCH2

patched 2

The Human Phenotype Ontology links 45 traits to PTCH2, 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
Abnormality of the neck	Often (30–79%)
Big calvaria	Often (30–79%)
Odontogenic keratocysts of the jaw	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Abnormality of the sense of smell	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Bridged sella turcica	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Very often (80–99%)
Abnormality of the ribs	Often (30–79%)
Anterior rib cupping	Often (30–79%)
Calcification of falx cerebri	Often (30–79%)
Cleft ribs	Often (30–79%)
Rib fusion	Often (30–79%)
Scoliosis	Often (30–79%)
Vertebral fusion	Often (30–79%)
Wedge-shaped vertebrae	Often (30–79%)
Abnormal vertebral morphology	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cat eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Palmar pits	Very often (80–99%)
Plantar pits	Very often (80–99%)
Short fingers or toes	Often (30–79%)
Long slender fingers	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)
Noncancerous growth of membranes covering brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Medulloblastoma	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ovarian fibroma	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Beauty mark	Very often (80–99%)
Basal cell carcinoma	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac fibroma	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypogonadotropic hypogonadism	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 PTCH2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test