Traits

Traits linked to PDE4D

phosphodiesterase 4D

The Human Phenotype Ontology links 108 traits to PDE4D, 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
Depressed nasal bridge	Always
Short nose	Always
Decreased size of maxilla	Very often (80–99%)
Flat face	Very often (80–99%)
Flat nose	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Open mouth	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Big lower jaw	Often (30–79%)
Broad head shape	Often (30–79%)
Coarse facial features	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Frontal bossing	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent forehead	Often (30–79%)
Short philtrum	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Broad face	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Increased thickness of skull cap	Sometimes (5–29%)
Large forehead	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Open bite	Sometimes (5–29%)
Prominent nasal tip	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Round face	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short finger bones	Always
Short fingers or toes	Always
Short long bone of foot	Always
Shortened long bone of hand	Always
Abnormal shape of long bones of hand	Very often (80–99%)
Broad big toe	Very often (80–99%)
Broad foot	Very often (80–99%)
Short toe	Very often (80–99%)
Wide digital bones	Very often (80–99%)
Wide long bone of foot	Very often (80–99%)
Wide long bones of hand	Very often (80–99%)
Abnormal morphology of the radius	Often (30–79%)
Abnormal morphology of ulna	Often (30–79%)
Abnormal shape of shaft of long bone	Often (30–79%)
Abnormality of the thighbone	Often (30–79%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Bowing of the long bones	Often (30–79%)
Cone-shaped end part of long bone	Often (30–79%)
Coxa valga	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Smaller or shorter than typical limbs	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Bilateral coxa valga	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Short middle bone of finger	Sometimes (5–29%)
Upper limb undergrowth	Sometimes (5–29%)
Accelerated wrist bone maturation	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cone-shaped end part of bone	Always
Abnormal vertebral body morphology	Very often (80–99%)
Advanced bone age	Very often (80–99%)
Speckled calcifications in end part of bone	Very often (80–99%)
Joint dislocation	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Caudal interpedicular narrowing	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Irregular vertebral endplates	Sometimes (5–29%)
Low muscle tone, in neonatal onset	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Intellectual disability	Always
Peripheral neuropathy	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Autism	Not recorded
Global developmental delay	Not recorded
More active than typical	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Blue eyes	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Mild short stature	Sometimes (5–29%)
Obesity	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal female external genitalia	Often (30–79%)
Undescended testes	Often (30–79%)
Hypospadias	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the nail	Very often (80–99%)
Beauty mark	Sometimes (5–29%)
Fair hair	Not recorded
Red hair	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Underactive thyroid gland from birth	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Sometimes (5–29%)
Elevated circulating parathyroid hormone level	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Low blood pressure	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Often (30–79%)

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 PDE4D and how often each is seen. Find out more at hpo.jax.org.

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