Traits

Traits linked to BMP4

bone morphogenetic protein 4

The Human Phenotype Ontology links 95 traits to BMP4, 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 tooth eruption	Very often (80–99%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
One sided cleft palate	Often (30–79%)
Velopharyngeal incompetence	Often (30–79%)
Abnormal number of permanent teeth	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Hole in roof of mouth	Sometimes (5–29%)
Missing lateral incisor	Sometimes (5–29%)
Peg-shaped maxillary lateral incisors	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Decreased size of maxilla	Rarely (1–4%)
Abnormally small tongue	Not recorded
Asymmetry of the posterior head	Not recorded
Bifid uvula	Not recorded
Broad head shape	Not recorded
Cleft lip	Not recorded
Cyst of eye socket	Not recorded
Facial asymmetry	Not recorded
High forehead	Not recorded
Lambdoidal craniosynostosis	Not recorded
Little lower jaw	Not recorded
Midface retrusion	Not recorded
Receding chin	Not recorded
Small hypophyseal fossa	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal vitreous humor morphology	Very often (80–99%)
Abnormally small eyeball	Very often (80–99%)
Absence of eyeballs	Very often (80–99%)
Close sighted	Very often (80–99%)
Clouding of the lens of the eye	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Retinal detachment	Very often (80–99%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Cat eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Noninflammatory retina disease	Often (30–79%)
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Hardening of skin and connective tissue	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Blindness	Not recorded
Notched pupil	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Delayed speech and language development	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Inferior cerebellar vermis hypoplasia	Sometimes (5–29%)
Absent optic tract	Not recorded
Absent speech development	Not recorded
Aplasia/Hypoplasia of the corpus callosum	Not recorded
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Delayed CNS myelination	Not recorded
Morphological central nervous system abnormality	Not recorded
Small cerebellum	Not recorded
Ventriculomegaly	Not recorded

Abnormality of limbs

Trait	How often it is seen
Attachment of thumb close to wrist	Sometimes (5–29%)
Extra toe attached near the little toe	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Short middle bone of finger	Sometimes (5–29%)
Abnormality of the hand	Not recorded
Curvature of little finger	Not recorded
Fused toes	Not recorded
More than five fingers or toes on hands or feet	Not recorded
Short fingers or toes	Not recorded
Single transverse palmar crease	Not recorded
Thumb contracture	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)
Recurrent middle ear infection	Often (30–79%)
Tympanic membrane hypermobility	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Ears rotated toward back of head	Not recorded
Hearing impairment	Not recorded
Large ears	Not recorded
Low-set ears	Not recorded
Prominent ear	Not recorded
Uplifted earlobe	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Anterior hypopituitarism	Not recorded
Female hypogonadism	Not recorded
Small adrenal glands	Not recorded
Underactive thyroid	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor suck	Often (30–79%)
Malnutrition	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)
Small kidneys	Not recorded
Smaller than typical growth of scrotum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Not recorded
Severely decreased muscle tone	Not recorded

Abnormality of the integument

Trait	How often it is seen
Atypical nail growth	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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 BMP4 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