Trăsături

Trăsături asociate cu GDF5

growth differentiation factor 5

Human Phenotype Ontology asociază 154 trăsături cu GDF5, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Acromesomelia	Întotdeauna
Short calf bone	Întotdeauna
Short fingers or toes	Întotdeauna
Short middle bone of 4th finger	Întotdeauna
Short middle bone of index finger	Întotdeauna
Short middle bone of middle finger	Întotdeauna
Short middle bone of the little finger	Întotdeauna
Shortened 1st long bone of hand	Întotdeauna
Abnormal morphology of the radius	Foarte des (80–99%)
Abnormal morphology of ulna	Foarte des (80–99%)
Abnormality of the ankle	Foarte des (80–99%)
Abnormality of the shankbone	Foarte des (80–99%)
Abnormality of the thumb	Foarte des (80–99%)
Absent calf bone	Foarte des (80–99%)
Absent middle toe bones	Foarte des (80–99%)
Absent/small 1st long bone of hand	Foarte des (80–99%)
Absent/small calf bone	Foarte des (80–99%)
Absent/small long bones of hand	Foarte des (80–99%)
Bilateral single transverse palmar creases	Foarte des (80–99%)
Bowing of the long bones	Foarte des (80–99%)
Cone-shaped end part of the middle hand bones	Foarte des (80–99%)
Elbow dislocation	Foarte des (80–99%)
Finger bends toward pinky	Foarte des (80–99%)
Fused ankle bones	Foarte des (80–99%)
Fused finger bones	Foarte des (80–99%)
Fusion of wrist bones	Foarte des (80–99%)
Permanent flexion of the finger	Foarte des (80–99%)
Pseudoepiphyses of the 3rd finger	Foarte des (80–99%)
Pseudoepiphysis of the 2nd finger	Foarte des (80–99%)
Short 3rd finger	Foarte des (80–99%)
Short big toe	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Short index finger	Foarte des (80–99%)
Short index fingers and second toes	Foarte des (80–99%)
Short middle bone of finger	Foarte des (80–99%)
Short palm	Foarte des (80–99%)
Short thumb	Foarte des (80–99%)
Short toe	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Type C brachydactyly	Foarte des (80–99%)
Abnormal shape of long bones of hand	Des (30–79%)
Abnormally shaped wrist bones	Des (30–79%)
Absent toe	Des (30–79%)
Absent/small thumb	Des (30–79%)
Angel-shaped phalanx	Des (30–79%)
Atypical position of finger	Des (30–79%)
Broad thumb	Des (30–79%)
Club foot on both sides	Des (30–79%)
Complete duplication of outermost bone of the thumb	Des (30–79%)
Curvature of finger	Des (30–79%)
Curvature of little finger	Des (30–79%)
Deformed ankle bones	Des (30–79%)
Dislocated kneecap	Des (30–79%)
Disproportionately short upper portion of limb	Des (30–79%)
Elbow ankylosis	Des (30–79%)
Enlarged end part of innermost long bone of index finger	Des (30–79%)
Enlarged end part of innermost long bone of the middle finger	Des (30–79%)
Enlarged end part of the middle bone of the index finger	Des (30–79%)
Enlarged end part of the middle bone of the middle finger	Des (30–79%)
Extra little finger	Des (30–79%)
Fused long bone of hand with innermost finger bone	Des (30–79%)
Hip dislocation	Des (30–79%)
Incorrect alignment of wrist bone	Des (30–79%)
Short finger bones	Des (30–79%)
Short long bone of foot	Des (30–79%)
Short shinbone	Des (30–79%)
Short, cube shaped long bone of hand	Des (30–79%)
Shortened long bone of hand	Des (30–79%)
Speckled calcifications in the end part of the outermost thumb bone	Des (30–79%)
Talipes equinovalgus	Des (30–79%)
Triangular end part of innermost long bone of index finger	Des (30–79%)
Triangular end part of innermost long bone of the middle finger	Des (30–79%)
Triangular end part of the middle bone of the index finger	Des (30–79%)
Triangular end part of the middle bone of the middle finger	Des (30–79%)
Triangular shaped innermost bone of index finger	Des (30–79%)
Triangular shaped innermost bone of middle finger	Des (30–79%)
Triangular shaped middle bone of index finger	Des (30–79%)
Triangular shaped middle bone of the middle finger	Des (30–79%)
Ulnar deviation of the 2nd finger	Des (30–79%)
Ulnar deviation of the 3rd finger	Des (30–79%)
Abnormality of the wrist	Uneori (5–29%)
Absent/small middle index finger bone	Uneori (5–29%)
Club feet	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Fused outermost bones of hand	Uneori (5–29%)
Metatarsus valgus	Uneori (5–29%)
Shortened 2nd long bone of hand	Uneori (5–29%)
Underdeveloped inner large forearm bone	Uneori (5–29%)
Wide long bones of hand	Uneori (5–29%)
Abnormal finger flexion crease	Neînregistrat
Absent/small kneecap	Neînregistrat
Absent/small long bone of foot	Neînregistrat
Absent/small middle bone of pinky finger	Neînregistrat
Bowing of outer large bone of the forearm	Neînregistrat
Broad big toe	Neînregistrat
Bunion	Neînregistrat
Distal femoral bowing	Neînregistrat
Distal tibiofibular synostosis	Neînregistrat
Dropped arches	Neînregistrat
Fibular torsion	Neînregistrat
Fused innermost and middle bones of little finger	Neînregistrat
Fused wrist bones	Neînregistrat
Fusion of upper and lower arm bones	Neînregistrat
Hypersegmentation of proximal phalanx of second finger	Neînregistrat
Hypersegmentation of proximal phalanx of third finger	Neînregistrat
Madelung deformity	Neînregistrat
Medially deviated second toe	Neînregistrat
Pes valgus	Neînregistrat
Radial deviation of the 2nd finger	Neînregistrat
Short digit	Neînregistrat
Short humerus	Neînregistrat
Short outermost finger bone	Neînregistrat
Short thighbone	Neînregistrat
Shortening of all innermost bones of the fingers	Neînregistrat
Shortening of all middle phalanges of the fingers	Neînregistrat
Single transverse palmar crease	Neînregistrat
Tibiotalar synostosis	Neînregistrat
Triangular shaped middle little finger bone	Neînregistrat
Underdeveloped outer large forearm bone	Neînregistrat
Valgus hand deformity	Neînregistrat
Webbed 2nd and 3rd toes	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal shape of end part of bone	Foarte des (80–99%)
Abnormal skeletal development	Foarte des (80–99%)
Abnormality of the hip bone	Foarte des (80–99%)
Joint stiffness	Foarte des (80–99%)
Limitation of joint mobility	Foarte des (80–99%)
Proximal symphalangism	Foarte des (80–99%)
Abnormal formation of the hip	Des (30–79%)
Abnormal shape of pelvic girdle bone	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Hip osteoarthritis	Des (30–79%)
Scoliosis	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Flexed joint that cannot be straightened	Neînregistrat
Vertebral fusion	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Narrow nasal bridge	Foarte des (80–99%)
Delayed eruption of teeth	Des (30–79%)
Failure of development of between one and six teeth	Des (30–79%)
Facial asymmetry	Uneori (5–29%)
Wide nose	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingernails	Des (30–79%)
Small nail	Des (30–79%)
Abnormality of the nail	Uneori (5–29%)
Absent/small toenails	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short-limb short stature	Foarte des (80–99%)
Severe short-limb dwarfism	Foarte des (80–99%)
Short stature	Foarte des (80–99%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Conductive deafness	Foarte des (80–99%)
Sensorineural hearing impairment	Des (30–79%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Cognitive impairment	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of connective tissue	Foarte des (80–99%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu GDF5 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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