Traits

Traits linked to FLNA

filamin A

The Human Phenotype Ontology links 395 traits to FLNA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormality of radial diaphysis	Always
Bowed legs	Always
Bowed shankbone	Always
Bowed thighbone	Always
Bowing of the arm	Always
Bowing of the long bones	Always
Broad thumb	Always
Cone-shaped end part of the outermost hand bones	Always
Coxa valga	Always
Curvature of digit	Always
Curving of inner forearm bone	Always
Erlenmeyer flask shaped thighbone	Always
Knock knees	Always
Short finger	Always
Short outermost finger bone	Always
Webbed fingers or toes	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
Interphalangeal joint contracture of finger	Very often (80–99%)
Joint contracture of the hand	Very often (80–99%)
Long fingers	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Short big toe	Very often (80–99%)
Short finger bones	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short thumb	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Absent calf bone	Often (30–79%)
Attachment of thumb close to wrist	Often (30–79%)
Breakdown of small bones of fingers	Often (30–79%)
Broad wide portion of long bone	Often (30–79%)
Cone-shaped end part of finger bones	Often (30–79%)
Dislocated radial head	Often (30–79%)
Elbow dislocation	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Hip dislocation	Often (30–79%)
Limitation of knee mobility	Often (30–79%)
Limitation of movement at ankles	Often (30–79%)
Limited elbow movement	Often (30–79%)
Limited wrist movement	Often (30–79%)
Long slender fingers	Often (30–79%)
Metacarpophalangeal joint contracture	Often (30–79%)
Pes valgus	Often (30–79%)
Short long bone of foot	Often (30–79%)
Short outermost bone of the thumb	Often (30–79%)
Short palm	Often (30–79%)
Short shaft of long bone	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Ulnar deviation of the hand	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Abnormal ankle bones	Sometimes (5–29%)
Degeneration of small hand muscles	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Fused ankle bones	Sometimes (5–29%)
Fused wrist bones	Sometimes (5–29%)
Fusion of wrist bones	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Mesomelic arm shortening	Sometimes (5–29%)
Mesomelic leg shortening	Sometimes (5–29%)
Osteolysis involving bones of the lower limbs	Sometimes (5–29%)
Osteolysis involving bones of the upper limbs	Sometimes (5–29%)
Preaxial polydactyly	Sometimes (5–29%)
Progressive bowing of long bones	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Underdeveloped shoulder muscle	Sometimes (5–29%)
Abnormal foot bone ossification	Not recorded
Abnormal maturation of the hand bones	Not recorded
Abnormality of the 5th long bone of foot	Not recorded
Abnormality of the lower limb	Not recorded
Ankle flexion contracture	Not recorded
Bipartite calcaneus	Not recorded
Bowing of outer large bone of the forearm	Not recorded
Broad big toe	Not recorded
Broad outermost bone of the thumb	Not recorded
Broad outermost finger bone	Not recorded
Bulbous tips of toes	Not recorded
Camptodactyly of toe	Not recorded
Capitate-hamate fusion	Not recorded
Club feet	Not recorded
Dislocated hip since birth	Not recorded
Extra little finger	Not recorded
Extra wrist bones	Not recorded
Flared wide portion of long bone	Not recorded
Fused toes	Not recorded
Inability to straighten knee	Not recorded
Increased density of shaft of long bone	Not recorded
Irregular long bones of hand	Not recorded
Lateral femoral bowing	Not recorded
Limited elbow extension	Not recorded
Limited knee flexion	Not recorded
Long finger bone	Not recorded
Long foot	Not recorded
Nonossified fifth metatarsal	Not recorded
Overlapping fingers	Not recorded
Partial fusion of carpals	Not recorded
Partial fusion of tarsals	Not recorded
Radial deviation of the 2nd finger	Not recorded
Rocker bottom foot	Not recorded
Short humerus	Not recorded
Short toe	Not recorded
Shortened 3rd long bone of hand	Not recorded
Shortened 4th long bone of hand	Not recorded
Shortened 5th long bone of hand	Not recorded
Small to absent calf bone	Not recorded
Toe curvature	Not recorded
Wide hand bones	Not recorded
Winged shoulder blade	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Always
Bad bite	Always
Big calvaria	Always
Cleft palate	Always
Deep philtrum	Always
Dense bone of skull base	Always
Deviated nasal septum	Always
Extra bones within cranial sutures	Always
Fetal cystic hygroma	Always
Flat sella turcica	Always
Full cheeks	Always
High palate	Always
Highly arched eyebrow	Always
Increased size of nasopharyngeal adenoids	Always
Increased thickness of skull cap	Always
Little lower jaw	Always
Monobrow	Always
Narrow forehead	Always
Narrow mouth	Always
Nasal inflammation	Always
Prominent brow	Always
Prominent forehead	Always
Prominent nasal tip	Always
Receding chin	Always
Short neck	Always
Small face	Always
Sparse lower eyelashes	Always
Sparse upper eyelashes	Always
Thick eyebrow	Always
Triangular face	Always
Underdeveloped tissue around nostril	Always
Wide nasal base	Always
Wide nasal bridge	Always
Wider-than-typical soft spot of skull	Always
Widow's peak	Always
Born with teeth	Very often (80–99%)
Broad forehead	Very often (80–99%)
Delayed cranial suture closure	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Failure of development of all teeth	Very often (80–99%)
Failure of development of more than six teeth	Very often (80–99%)
Short nose	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormal dental position	Often (30–79%)
Absent frontal sinuses	Often (30–79%)
Accessory oral frenulum	Often (30–79%)
Coarse facial features	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal tip	Often (30–79%)
Enlargement of craniofacial bones	Often (30–79%)
Eye folds	Often (30–79%)
Facial asymmetry	Often (30–79%)
Frontal bossing	Often (30–79%)
Full lips	Often (30–79%)
Hypoplastic frontal sinuses	Often (30–79%)
Pierre-Robin sequence	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Decreased size of teeth	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Full lower lip	Rarely (1–4%)
Long philtrum	Rarely (1–4%)
Absence of a tooth	Not recorded
Antegonial notching of mandible	Not recorded
Big foramen magnum	Not recorded
Broad face	Not recorded
Delayed closure of the soft spot on the skull	Not recorded
Delayed loss of baby teeth	Not recorded
Flat face	Not recorded
Hairy forehead	Not recorded
Increased size of the mandible	Not recorded
Large forehead	Not recorded
Long neck	Not recorded
Midface retrusion	Not recorded
Multiple impacted teeth	Not recorded
Obtuse angle of mandible	Not recorded
Pointed chin	Not recorded
Prominent back of the head	Not recorded
Short chin	Not recorded
Smooth philtrum	Not recorded
Thick skull base	Not recorded
Vertical clivus	Not recorded

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Atrial septal dilatation	Always
Dilatation of the sinus of Valsalva	Always
Hole in heart wall separating two lower heart chambers	Always
Increased blood pressure in blood vessels of lungs	Always
Pulmonic regurgitation	Always
Raynaud phenomenon	Always
Tricuspid regurgitation	Always
Abnormal cardiovascular system morphology	Very often (80–99%)
Aortic regurgitation	Very often (80–99%)
Mitral regurgitation	Very often (80–99%)
Patent ductus arteriosus	Very often (80–99%)
Abnormal cardiac septum morphology	Often (30–79%)
Abnormal heart valve morphology	Often (30–79%)
Abnormality of the heart	Often (30–79%)
Mitral valve prolapse	Often (30–79%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Restrictive cardiomyopathy	Rarely (1–4%)
Right atrial enlargement	Rarely (1–4%)
Cardiac failure	Not recorded
Cor pulmonale	Not recorded
Short chordae tendineae of the mitral valve	Not recorded
Short chordae tendineae of the tricuspid valve	Not recorded
Tricuspid valve prolapse	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Obstructive sleep apnea	Always
Small cerebellum	Always
Split spine	Always
Thin corpus callosum	Always
Intellectual disability, mild	Very often (80–99%)
Abnormal shape of nervous system	Often (30–79%)
Cognitive impairment	Often (30–79%)
Global developmental delay	Often (30–79%)
Periventricular heterotopia	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Chiari malformation	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Myelomeningocele	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Periventricular nodular heterotopia	Rarely (1–4%)
Abnormal gait	Not recorded
Abnormality of neuronal migration	Not recorded
Delayed speech and language development	Not recorded
Gray matter heterotopia	Not recorded
Motor delay	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Enlarged liver	Always
Lactose intolerance	Always
Prolonged yellowing of skin in newborn	Always
Thoracoabdominal wall defect	Always
Umbilical hernia	Always
Vomiting	Always
Inguinal hernia	Very often (80–99%)
Malabsorption	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)
Underdeveloped instestine	Very often (80–99%)
Intestinal malrotation	Often (30–79%)
Omphalocele	Often (30–79%)
Congenital shortened small intestine	Sometimes (5–29%)
Abdominal bloating	Not recorded
Constipation	Not recorded
Feeding difficulties in infancy	Not recorded
Intestinal pseudo-obstruction	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fine hair	Always
Hyperelastic skin	Very often (80–99%)
Hyperpigmented papule	Very often (80–99%)
Thin skin	Very often (80–99%)
Hair loss	Often (30–79%)
Keloids	Often (30–79%)
Sparse hair	Often (30–79%)
Hanging skin	Rarely (1–4%)
Abnormal skin pigmentation	Not recorded
Atypical nail growth	Not recorded
Coarse hair	Not recorded
Excessive hairiness	Not recorded
Frontal upsweep of hair	Not recorded
Localized skin lesion	Not recorded
Poor nail formation	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Clouding of the lens of the eye	Always
Esodeviation	Always
Glaucoma	Always
Wide-set eyes	Always
Abnormal cornea morphology	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Developmental glaucoma	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Moderate myopia	Sometimes (5–29%)
Drooping of both upper eyelids	Rarely (1–4%)
Drooping upper eyelid	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Bilateral sensorineural hearing impairment	Always
Ears rotated toward back of head	Always
Low-set ears	Always
Middle ear infection	Always
Abnormally shaped ears	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Conductive deafness	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Mixed hearing impairment	Sometimes (5–29%)
Large ears	Not recorded
Prominent ear	Not recorded
Recurrent middle ear infection	Not recorded
Underdeveloped superior crus of antihelix	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Always
Narrowing of the ureter	Always
Hypospadias	Often (30–79%)
Narrowing of the urethra	Often (30–79%)
Ureteral obstruction	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Displacement of the urethral meatus	Sometimes (5–29%)
Hydroureter	Not recorded
Undescended testes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	Always
Tracheobronchomalacia	Always
Poorly developed lungs	Very often (80–99%)
Subglottic stenosis	Often (30–79%)
Respiratory function loss	Sometimes (5–29%)
Breathing difficulty	Rarely (1–4%)
Noisy breathing	Not recorded
Respiratory failure	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Always
Bone marrow maturation arrest	Always
Bleeding tendency	Very often (80–99%)
Bruising susceptibility	Very often (80–99%)
Abnormality of the coagulation cascade	Not recorded
Large platelets	Not recorded
Low platelet count	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Always
Short stature	Always
Weight loss	Always
Decreased body weight	Not recorded
Growth delay as children	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Anti-Ku antibody positivity	Always
Anti-PM-Scl75 antibody positivity	Always
Recurrent infections	Always
Recurrent respiratory infections	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Inclusion body fibromatosis	Very often (80–99%)
Fibroma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Accumulation of acid in body due to kidney problem	Always
Laboratory abnormality	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Always

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 FLNA and how often each is seen. Find out more at hpo.jax.org.

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