Tunnused

Geeniga GDF5 seotud tunnused

growth differentiation factor 5

Inimese fenotüübi ontoloogia seostab geeniga GDF5 154 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal shape of end part of bone	Väga sageli (80–99%)
Abnormal skeletal development	Väga sageli (80–99%)
Abnormality of the hip bone	Väga sageli (80–99%)
Joint stiffness	Väga sageli (80–99%)
Limitation of joint mobility	Väga sageli (80–99%)
Proximal symphalangism	Väga sageli (80–99%)
Abnormal formation of the hip	Sageli (30–79%)
Abnormal shape of pelvic girdle bone	Sageli (30–79%)
Cone-shaped end part of bone	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Hip osteoarthritis	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Double-Jointed	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Pole registreeritud
Vertebral fusion	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Narrow nasal bridge	Väga sageli (80–99%)
Delayed eruption of teeth	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
Facial asymmetry	Mõnikord (5–29%)
Wide nose	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingernails	Sageli (30–79%)
Small nail	Sageli (30–79%)
Abnormality of the nail	Mõnikord (5–29%)
Absent/small toenails	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Väga sageli (80–99%)
Severe short-limb dwarfism	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Sageli (30–79%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal speech pattern	Väga sageli (80–99%)
Cognitive impairment	Sageli (30–79%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of connective tissue	Väga sageli (80–99%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga GDF5 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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