Trăsături

Trăsături asociate cu FLNA

filamin A

Human Phenotype Ontology asociază 395 trăsături cu FLNA, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of radial diaphysis	Întotdeauna
Bowed legs	Întotdeauna
Bowed shankbone	Întotdeauna
Bowed thighbone	Întotdeauna
Bowing of the arm	Întotdeauna
Bowing of the long bones	Întotdeauna
Broad thumb	Întotdeauna
Cone-shaped end part of the outermost hand bones	Întotdeauna
Coxa valga	Întotdeauna
Curvature of digit	Întotdeauna
Curving of inner forearm bone	Întotdeauna
Erlenmeyer flask shaped thighbone	Întotdeauna
Knock knees	Întotdeauna
Short finger	Întotdeauna
Short outermost finger bone	Întotdeauna
Webbed fingers or toes	Întotdeauna
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Gap between 1st and 2nd toes	Foarte des (80–99%)
Interphalangeal joint contracture of finger	Foarte des (80–99%)
Joint contracture of the hand	Foarte des (80–99%)
Long fingers	Foarte des (80–99%)
Permanent flexion of the finger	Foarte des (80–99%)
Short big toe	Foarte des (80–99%)
Short finger bones	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short thumb	Foarte des (80–99%)
Abnormal shape of long bones of hand	Des (30–79%)
Absent calf bone	Des (30–79%)
Attachment of thumb close to wrist	Des (30–79%)
Breakdown of small bones of fingers	Des (30–79%)
Broad wide portion of long bone	Des (30–79%)
Cone-shaped end part of finger bones	Des (30–79%)
Dislocated radial head	Des (30–79%)
Elbow dislocation	Des (30–79%)
Elbow flexion contracture	Des (30–79%)
Hip dislocation	Des (30–79%)
Limitation of knee mobility	Des (30–79%)
Limitation of movement at ankles	Des (30–79%)
Limited elbow movement	Des (30–79%)
Limited wrist movement	Des (30–79%)
Long slender fingers	Des (30–79%)
Metacarpophalangeal joint contracture	Des (30–79%)
Pes valgus	Des (30–79%)
Short long bone of foot	Des (30–79%)
Short outermost bone of the thumb	Des (30–79%)
Short palm	Des (30–79%)
Short shaft of long bone	Des (30–79%)
Shortened long bone of hand	Des (30–79%)
Ulnar deviation of the hand	Des (30–79%)
Wrist flexion contracture	Des (30–79%)
Abnormal ankle bones	Uneori (5–29%)
Degeneration of small hand muscles	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Fused ankle bones	Uneori (5–29%)
Fused wrist bones	Uneori (5–29%)
Fusion of wrist bones	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Mesomelic arm shortening	Uneori (5–29%)
Mesomelic leg shortening	Uneori (5–29%)
Osteolysis involving bones of the lower limbs	Uneori (5–29%)
Osteolysis involving bones of the upper limbs	Uneori (5–29%)
Preaxial polydactyly	Uneori (5–29%)
Progressive bowing of long bones	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Underdeveloped shoulder muscle	Uneori (5–29%)
Abnormal foot bone ossification	Neînregistrat
Abnormal maturation of the hand bones	Neînregistrat
Abnormality of the 5th long bone of foot	Neînregistrat
Abnormality of the lower limb	Neînregistrat
Ankle flexion contracture	Neînregistrat
Bipartite calcaneus	Neînregistrat
Bowing of outer large bone of the forearm	Neînregistrat
Broad big toe	Neînregistrat
Broad outermost bone of the thumb	Neînregistrat
Broad outermost finger bone	Neînregistrat
Bulbous tips of toes	Neînregistrat
Camptodactyly of toe	Neînregistrat
Capitate-hamate fusion	Neînregistrat
Club feet	Neînregistrat
Dislocated hip since birth	Neînregistrat
Extra little finger	Neînregistrat
Extra wrist bones	Neînregistrat
Flared wide portion of long bone	Neînregistrat
Fused toes	Neînregistrat
Inability to straighten knee	Neînregistrat
Increased density of shaft of long bone	Neînregistrat
Irregular long bones of hand	Neînregistrat
Lateral femoral bowing	Neînregistrat
Limited elbow extension	Neînregistrat
Limited knee flexion	Neînregistrat
Long finger bone	Neînregistrat
Long foot	Neînregistrat
Nonossified fifth metatarsal	Neînregistrat
Overlapping fingers	Neînregistrat
Partial fusion of carpals	Neînregistrat
Partial fusion of tarsals	Neînregistrat
Radial deviation of the 2nd finger	Neînregistrat
Rocker bottom foot	Neînregistrat
Short humerus	Neînregistrat
Short toe	Neînregistrat
Shortened 3rd long bone of hand	Neînregistrat
Shortened 4th long bone of hand	Neînregistrat
Shortened 5th long bone of hand	Neînregistrat
Small to absent calf bone	Neînregistrat
Toe curvature	Neînregistrat
Wide hand bones	Neînregistrat
Winged shoulder blade	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Întotdeauna
Bad bite	Întotdeauna
Big calvaria	Întotdeauna
Cleft palate	Întotdeauna
Deep philtrum	Întotdeauna
Dense bone of skull base	Întotdeauna
Deviated nasal septum	Întotdeauna
Extra bones within cranial sutures	Întotdeauna
Fetal cystic hygroma	Întotdeauna
Flat sella turcica	Întotdeauna
Full cheeks	Întotdeauna
High palate	Întotdeauna
Highly arched eyebrow	Întotdeauna
Increased size of nasopharyngeal adenoids	Întotdeauna
Increased thickness of skull cap	Întotdeauna
Little lower jaw	Întotdeauna
Monobrow	Întotdeauna
Narrow forehead	Întotdeauna
Narrow mouth	Întotdeauna
Nasal inflammation	Întotdeauna
Prominent brow	Întotdeauna
Prominent forehead	Întotdeauna
Prominent nasal tip	Întotdeauna
Receding chin	Întotdeauna
Short neck	Întotdeauna
Small face	Întotdeauna
Sparse lower eyelashes	Întotdeauna
Sparse upper eyelashes	Întotdeauna
Thick eyebrow	Întotdeauna
Triangular face	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Wide nasal base	Întotdeauna
Wide nasal bridge	Întotdeauna
Wider-than-typical soft spot of skull	Întotdeauna
Widow's peak	Întotdeauna
Born with teeth	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Delayed cranial suture closure	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Failure of development of all teeth	Foarte des (80–99%)
Failure of development of more than six teeth	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Wide fontanelles	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Abnormal dental position	Des (30–79%)
Absent frontal sinuses	Des (30–79%)
Accessory oral frenulum	Des (30–79%)
Coarse facial features	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Depressed nasal tip	Des (30–79%)
Enlargement of craniofacial bones	Des (30–79%)
Eye folds	Des (30–79%)
Facial asymmetry	Des (30–79%)
Frontal bossing	Des (30–79%)
Full lips	Des (30–79%)
Hypoplastic frontal sinuses	Des (30–79%)
Pierre-Robin sequence	Des (30–79%)
Retraction of the tongue	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Decreased size of teeth	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Encephalocele	Uneori (5–29%)
Narrow palate	Uneori (5–29%)
Pit in front of the ear	Uneori (5–29%)
Full lower lip	Rar (1–4%)
Long philtrum	Rar (1–4%)
Absence of a tooth	Neînregistrat
Antegonial notching of mandible	Neînregistrat
Big foramen magnum	Neînregistrat
Broad face	Neînregistrat
Delayed closure of the soft spot on the skull	Neînregistrat
Delayed loss of baby teeth	Neînregistrat
Flat face	Neînregistrat
Hairy forehead	Neînregistrat
Increased size of the mandible	Neînregistrat
Large forehead	Neînregistrat
Long neck	Neînregistrat
Midface retrusion	Neînregistrat
Multiple impacted teeth	Neînregistrat
Obtuse angle of mandible	Neînregistrat
Pointed chin	Neînregistrat
Prominent back of the head	Neînregistrat
Short chin	Neînregistrat
Smooth philtrum	Neînregistrat
Thick skull base	Neînregistrat
Vertical clivus	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal formation of the hip	Întotdeauna
Elbow contracture	Întotdeauna
Excessive inward curvature of lower spine	Întotdeauna
Flexed joint that cannot be straightened	Întotdeauna
Foot pain	Întotdeauna
Funnel chest	Întotdeauna
Kyphoscoliosis	Întotdeauna
Narrow chest	Întotdeauna
Permanent flexion of the finger or toe	Întotdeauna
Poorly developed skeletal musculature	Întotdeauna
Scoliosis	Întotdeauna
Short collarbone	Întotdeauna
Small chest	Întotdeauna
Wavy collarbone	Întotdeauna
Abnormal cortical bone morphology	Foarte des (80–99%)
Abnormal skeletal development	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Hernia	Foarte des (80–99%)
Limitation of joint mobility	Foarte des (80–99%)
Shorter than typical length between neck and abdomen	Foarte des (80–99%)
Abnormal vertebral segmentation and fusion	Des (30–79%)
Abnormality of the pubic bone	Des (30–79%)
Abnormality of the ribs	Des (30–79%)
Anisospondyly	Des (30–79%)
Cervical C2/C3 vertebral fusion	Des (30–79%)
Congenital diaphragmatic hernia	Des (30–79%)
Flared iliac wing	Des (30–79%)
Fused neck	Des (30–79%)
Increased bone mineral density	Des (30–79%)
Loss of fat tissue in localized area	Des (30–79%)
High shoulder blade	Uneori (5–29%)
Shoulder dislocation	Uneori (5–29%)
Spastic diplegia	Uneori (5–29%)
Generalized decreased muscle tone	Rar (1–4%)
Joint stiffness	Rar (1–4%)
Abnormal bone structure	Neînregistrat
Anterior concavity of thoracic vertebrae	Neînregistrat
Anteriorly placed odontoid process	Neînregistrat
Coat hanger sign of ribs	Neînregistrat
Flattened vertebrae	Neînregistrat
Low muscle tone, in neonatal onset	Neînregistrat
Multiple joint contractures	Neînregistrat
Muscle degeneration	Neînregistrat
Short ribs	Neînregistrat
Small shoulder blade	Neînregistrat
Small wings of the pelvic girdle	Neînregistrat
Spondylolysis	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Întotdeauna
Atrial septal dilatation	Întotdeauna
Dilatation of the sinus of Valsalva	Întotdeauna
Hole in heart wall separating two lower heart chambers	Întotdeauna
Increased blood pressure in blood vessels of lungs	Întotdeauna
Pulmonic regurgitation	Întotdeauna
Raynaud phenomenon	Întotdeauna
Tricuspid regurgitation	Întotdeauna
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Aortic regurgitation	Foarte des (80–99%)
Mitral regurgitation	Foarte des (80–99%)
Patent ductus arteriosus	Foarte des (80–99%)
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal heart valve morphology	Des (30–79%)
Abnormality of the heart	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Stroke	Uneori (5–29%)
Restrictive cardiomyopathy	Rar (1–4%)
Right atrial enlargement	Rar (1–4%)
Cardiac failure	Neînregistrat
Cor pulmonale	Neînregistrat
Short chordae tendineae of the mitral valve	Neînregistrat
Short chordae tendineae of the tricuspid valve	Neînregistrat
Tricuspid valve prolapse	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Obstructive sleep apnea	Întotdeauna
Small cerebellum	Întotdeauna
Split spine	Întotdeauna
Thin corpus callosum	Întotdeauna
Intellectual disability, mild	Foarte des (80–99%)
Abnormal shape of nervous system	Des (30–79%)
Cognitive impairment	Des (30–79%)
Global developmental delay	Des (30–79%)
Periventricular heterotopia	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Chiari malformation	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Myelomeningocele	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Periventricular nodular heterotopia	Rar (1–4%)
Abnormal gait	Neînregistrat
Abnormality of neuronal migration	Neînregistrat
Delayed speech and language development	Neînregistrat
Gray matter heterotopia	Neînregistrat
Motor delay	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Întotdeauna
Enlarged liver	Întotdeauna
Lactose intolerance	Întotdeauna
Prolonged yellowing of skin in newborn	Întotdeauna
Thoracoabdominal wall defect	Întotdeauna
Umbilical hernia	Întotdeauna
Vomiting	Întotdeauna
Inguinal hernia	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Pyloric stenosis	Foarte des (80–99%)
Underdeveloped instestine	Foarte des (80–99%)
Intestinal malrotation	Des (30–79%)
Omphalocele	Des (30–79%)
Congenital shortened small intestine	Uneori (5–29%)
Abdominal bloating	Neînregistrat
Constipation	Neînregistrat
Feeding difficulties in infancy	Neînregistrat
Intestinal pseudo-obstruction	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Fine hair	Întotdeauna
Hyperelastic skin	Foarte des (80–99%)
Hyperpigmented papule	Foarte des (80–99%)
Thin skin	Foarte des (80–99%)
Hair loss	Des (30–79%)
Keloids	Des (30–79%)
Sparse hair	Des (30–79%)
Hanging skin	Rar (1–4%)
Abnormal skin pigmentation	Neînregistrat
Atypical nail growth	Neînregistrat
Coarse hair	Neînregistrat
Excessive hairiness	Neînregistrat
Frontal upsweep of hair	Neînregistrat
Localized skin lesion	Neînregistrat
Poor nail formation	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Întotdeauna
Clouding of the lens of the eye	Întotdeauna
Esodeviation	Întotdeauna
Glaucoma	Întotdeauna
Wide-set eyes	Întotdeauna
Abnormal cornea morphology	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Developmental glaucoma	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Moderate myopia	Uneori (5–29%)
Drooping of both upper eyelids	Rar (1–4%)
Drooping upper eyelid	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Bilateral sensorineural hearing impairment	Întotdeauna
Ears rotated toward back of head	Întotdeauna
Low-set ears	Întotdeauna
Middle ear infection	Întotdeauna
Abnormally shaped ears	Foarte des (80–99%)
Hearing impairment	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Mixed hearing impairment	Uneori (5–29%)
Large ears	Neînregistrat
Prominent ear	Neînregistrat
Recurrent middle ear infection	Neînregistrat
Underdeveloped superior crus of antihelix	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hydronephrosis	Întotdeauna
Narrowing of the ureter	Întotdeauna
Hypospadias	Des (30–79%)
Narrowing of the urethra	Des (30–79%)
Ureteral obstruction	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Displacement of the urethral meatus	Uneori (5–29%)
Hydroureter	Neînregistrat
Undescended testes	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Softening of voice box tissue	Întotdeauna
Tracheobronchomalacia	Întotdeauna
Poorly developed lungs	Foarte des (80–99%)
Subglottic stenosis	Des (30–79%)
Respiratory function loss	Uneori (5–29%)
Breathing difficulty	Rar (1–4%)
Noisy breathing	Neînregistrat
Respiratory failure	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Întotdeauna
Bone marrow maturation arrest	Întotdeauna
Bleeding tendency	Foarte des (80–99%)
Bruising susceptibility	Foarte des (80–99%)
Abnormality of the coagulation cascade	Neînregistrat
Large platelets	Neînregistrat
Low platelet count	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Growth delay	Întotdeauna
Short stature	Întotdeauna
Weight loss	Întotdeauna
Decreased body weight	Neînregistrat
Growth delay as children	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Anti-Ku antibody positivity	Întotdeauna
Anti-PM-Scl75 antibody positivity	Întotdeauna
Recurrent infections	Întotdeauna
Recurrent respiratory infections	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Inclusion body fibromatosis	Foarte des (80–99%)
Fibroma	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Accumulation of acid in body due to kidney problem	Întotdeauna
Laboratory abnormality	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating antibody level	Foarte des (80–99%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Întotdeauna

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 FLNA și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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