Traits

Traits linked to GDF5

growth differentiation factor 5

The Human Phenotype Ontology links 154 traits to GDF5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Acromesomelia	Always
Short calf bone	Always
Short fingers or toes	Always
Short middle bone of 4th finger	Always
Short middle bone of index finger	Always
Short middle bone of middle finger	Always
Short middle bone of the little finger	Always
Shortened 1st long bone of hand	Always
Abnormal morphology of the radius	Very often (80–99%)
Abnormal morphology of ulna	Very often (80–99%)
Abnormality of the ankle	Very often (80–99%)
Abnormality of the shankbone	Very often (80–99%)
Abnormality of the thumb	Very often (80–99%)
Absent calf bone	Very often (80–99%)
Absent middle toe bones	Very often (80–99%)
Absent/small 1st long bone of hand	Very often (80–99%)
Absent/small calf bone	Very often (80–99%)
Absent/small long bones of hand	Very often (80–99%)
Bilateral single transverse palmar creases	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Cone-shaped end part of the middle hand bones	Very often (80–99%)
Elbow dislocation	Very often (80–99%)
Finger bends toward pinky	Very often (80–99%)
Fused ankle bones	Very often (80–99%)
Fused finger bones	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Pseudoepiphyses of the 3rd finger	Very often (80–99%)
Pseudoepiphysis of the 2nd finger	Very often (80–99%)
Short 3rd finger	Very often (80–99%)
Short big toe	Very often (80–99%)
Short foot	Very often (80–99%)
Short index finger	Very often (80–99%)
Short index fingers and second toes	Very often (80–99%)
Short middle bone of finger	Very often (80–99%)
Short palm	Very often (80–99%)
Short thumb	Very often (80–99%)
Short toe	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Type C brachydactyly	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Abnormally shaped wrist bones	Often (30–79%)
Absent toe	Often (30–79%)
Absent/small thumb	Often (30–79%)
Angel-shaped phalanx	Often (30–79%)
Atypical position of finger	Often (30–79%)
Broad thumb	Often (30–79%)
Club foot on both sides	Often (30–79%)
Complete duplication of outermost bone of the thumb	Often (30–79%)
Curvature of finger	Often (30–79%)
Curvature of little finger	Often (30–79%)
Deformed ankle bones	Often (30–79%)
Dislocated kneecap	Often (30–79%)
Disproportionately short upper portion of limb	Often (30–79%)
Elbow ankylosis	Often (30–79%)
Enlarged end part of innermost long bone of index finger	Often (30–79%)
Enlarged end part of innermost long bone of the middle finger	Often (30–79%)
Enlarged end part of the middle bone of the index finger	Often (30–79%)
Enlarged end part of the middle bone of the middle finger	Often (30–79%)
Extra little finger	Often (30–79%)
Fused long bone of hand with innermost finger bone	Often (30–79%)
Hip dislocation	Often (30–79%)
Incorrect alignment of wrist bone	Often (30–79%)
Short finger bones	Often (30–79%)
Short long bone of foot	Often (30–79%)
Short shinbone	Often (30–79%)
Short, cube shaped long bone of hand	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Speckled calcifications in the end part of the outermost thumb bone	Often (30–79%)
Talipes equinovalgus	Often (30–79%)
Triangular end part of innermost long bone of index finger	Often (30–79%)
Triangular end part of innermost long bone of the middle finger	Often (30–79%)
Triangular end part of the middle bone of the index finger	Often (30–79%)
Triangular end part of the middle bone of the middle finger	Often (30–79%)
Triangular shaped innermost bone of index finger	Often (30–79%)
Triangular shaped innermost bone of middle finger	Often (30–79%)
Triangular shaped middle bone of index finger	Often (30–79%)
Triangular shaped middle bone of the middle finger	Often (30–79%)
Ulnar deviation of the 2nd finger	Often (30–79%)
Ulnar deviation of the 3rd finger	Often (30–79%)
Abnormality of the wrist	Sometimes (5–29%)
Absent/small middle index finger bone	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Fused outermost bones of hand	Sometimes (5–29%)
Metatarsus valgus	Sometimes (5–29%)
Shortened 2nd long bone of hand	Sometimes (5–29%)
Underdeveloped inner large forearm bone	Sometimes (5–29%)
Wide long bones of hand	Sometimes (5–29%)
Abnormal finger flexion crease	Not recorded
Absent/small kneecap	Not recorded
Absent/small long bone of foot	Not recorded
Absent/small middle bone of pinky finger	Not recorded
Bowing of outer large bone of the forearm	Not recorded
Broad big toe	Not recorded
Bunion	Not recorded
Distal femoral bowing	Not recorded
Distal tibiofibular synostosis	Not recorded
Dropped arches	Not recorded
Fibular torsion	Not recorded
Fused innermost and middle bones of little finger	Not recorded
Fused wrist bones	Not recorded
Fusion of upper and lower arm bones	Not recorded
Hypersegmentation of proximal phalanx of second finger	Not recorded
Hypersegmentation of proximal phalanx of third finger	Not recorded
Madelung deformity	Not recorded
Medially deviated second toe	Not recorded
Pes valgus	Not recorded
Radial deviation of the 2nd finger	Not recorded
Short digit	Not recorded
Short humerus	Not recorded
Short outermost finger bone	Not recorded
Short thighbone	Not recorded
Shortening of all innermost bones of the fingers	Not recorded
Shortening of all middle phalanges of the fingers	Not recorded
Single transverse palmar crease	Not recorded
Tibiotalar synostosis	Not recorded
Triangular shaped middle little finger bone	Not recorded
Underdeveloped outer large forearm bone	Not recorded
Valgus hand deformity	Not recorded
Webbed 2nd and 3rd toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormality of the hip bone	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Proximal symphalangism	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Hip osteoarthritis	Often (30–79%)
Scoliosis	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded
Vertebral fusion	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Narrow nasal bridge	Very often (80–99%)
Delayed eruption of teeth	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Facial asymmetry	Sometimes (5–29%)
Wide nose	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Often (30–79%)
Small nail	Often (30–79%)
Abnormality of the nail	Sometimes (5–29%)
Absent/small toenails	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Very often (80–99%)
Severe short-limb dwarfism	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal speech pattern	Very often (80–99%)
Cognitive impairment	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of connective tissue	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	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 GDF5 and how often each is seen. Find out more at hpo.jax.org.

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