Symptômes génétiques rares

Apprenez-en davantage sur les symptômes les plus diagnostiqués et leur relation avec syndromes génétiques rares.

Qu'est-ce qu'un symptôme génétique rare?

Les symptômes génétiques rares varient selon syndromes, et même pour le même syndrome peuvent varier considérablement entre les individus en leur présence et leur gravité.
Les symptômes associés à des syndromes génétiques rares peuvent affecter le développement physique et mental d'un individu. Ils peuvent se présenter à la naissance ou se développer plus tard dans l'enfance ou la vie. Certains symptômes génétiques rares sont progressifs et s'aggravent avec le temps, tandis que d'autres peuvent être atténués avec l'âge.
Plus d'un symptôme ou caractéristique génétique rare doit être identifiable pour commencer le parcours diagnostique d'un syndrome génétique rare.

More than 250,000 cases successfully analyzed

Explorez les plus détectés symptômes dans notre système (les chiffres sont globaux et basés sur les données de 120 pays) :

Symptôme Nom Total détecté *
Hyperkenetic Movements 60,000+
Rieger Anomaly 60,000+
Restrictive Behavior 60,000+
Restlessness 60,000+
Respiratory Distress 60,000+
Recurrent Infections 60,000+
Feeding Difficulties 60,000+
Feeding Difficulties in Infancy 60,000+
Bruising Susceptibility 60,000+
Skeletal Dysplasia 60,000+
Limb Undergrowth 60,000+
Inflexible Adherence to Routines or Rituals 60,000+
Immunodeficiency 60,000+
Hyporeflexia 60,000+
Hypodontia 60,000+
Hip Dysplasia 60,000+
Psychomotor Deterioration 60,000+
Precocious Puberty 60,000+
Poor Suck 60,000+
Poor Head Control 60,000+
Piebaldism 60,000+
Pear-shaped Nose 60,000+
Overfriendliness 60,000+
Overbite 60,000+
Mutism 60,000+
Motor Tics 60,000+
Mood Swings 60,000+
Missing Ribs 60,000+
Highly Arched Eyebrow 60,000+
Generalized Joint Laxity 60,000+
Gait Apraxia 60,000+
Fragile Skin 60,000+
Focal Behavior Arrest Seizure 60,000+
Flat Forehead 60,000+
Fixed Facial Expression 60,000+
Fingernail Dysplasia 60,000+
Finger Syndactyly 60,000+
Failure to Thrive in Infancy 60,000+
Facial Shape Deformation 60,000+
Externally Rotated Hips 60,000+
Ectrodactyly 60,000+
Dystonia 60,000+
Dyspnea 60,000+
Broad Neck 60,000+
Broad Face 60,000+
Abnormality of the Outer Ear 60,000+
Abnormality of the Genitourinary System 60,000+
Abnormal Fear/Anxiety-related Behavior 60,000+
Abnormal Emotion/Affect Behavior 60,000+
Postnatal Growth Retardation 60,000+
Abnormal Eating Behavior 60,000+
Abnormal Aggressive, Impulsive or Violent Behavior 60,000+
Tremor 60,000+
Thickened Skin 60,000+
Small for Gestational Age 60,000+
Short Forearm 60,000+
Neonatal Short-limb Short Stature 60,000+
Myopathic facies 60,000+
Malabsorption 60,000+
Long Fingers 60,000+
Large Forehead 60,000+
Large Fleshy Ears 60,000+
Large Beaked Nose 60,000+
Language Impairment 60,000+
Lack of Spontaneous Play 60,000+
Lack of Peer Relationships 60,000+
Joint hyper-flexibility 60,000+
Incoordination 60,000+
Microphthalmia 60,000+
Mask-like Facies 60,000+
Microglossia 60,000+
Inability to Walk 60,000+
Impaired Pain Sensation 60,000+
Focal Sensory Seizure 60,000+
Dyskinesia 60,000+
Doll-like Facies 60,000+
Disturbance of Facial Expression 60,000+
Delayed Puberty 60,000+
Deformed Rib Cage 60,000+
Deep Palmer Crease 60,000+
Abnormal Saccadic Eye Movements 60,000+
Cerebral Palsy 60,000+
Cranial Asymmetry 60,000+
Corneal Asymmetry 60,000+
Congenital, Generalized Hypertrichosis 60,000+
Clubbing of Toes 60,000+
Cleft of Chin 60,000+
Cerebral Atrophy 60,000+
Broad Skull 60,000+
Blue Irides 60,000+
Asymmetry of the Ears 60,000+
Apraxia 60,000+
Alopecia 60,000+
Abnormality of Eye Movement 60,000+
Abnormal Elasticity of Skin 60,000+
Gait Disturbance 60,000+
Dandy-Walker malformation 45,000+
Coloboma 55,000+
Optic Atrophy 50,000+
Ventriculomegaly 45,000+
Macroglossia 45,000+
Low anterior hairline 55,000+
Pulmonic stenosis 45,000+
Microtia 40,000+
Widely Spaced Teeth 70,000+
Narrow Mouth 55,000+
Aggressive Behavior 45,000+
Patent ductus arteriosus 50,000+
Tented upper lip vermilion 50,000+
Agenesis of corpus callosum 45,000+
Blepharophimosis 45,000+
Clinodactyly 50,000+
Proptosis 45,000+
Broad Eyebrow 50,000+
Hydrocephalus 55,000+
Everted lower lip vermilion 40,000+
Cupped Ear 70,000+
Facial Asymmetry 45,000+
Nystagmus 40,000+
Mandibular Prognathia 50,000+
Protruding Ear 50,000+
Umbilical Hernia 55,000+
Joint Laxity 40,000+
Retrognathia 50,000+
Behavioral Abnormality 70,000+
Cataracts 50,000+
Macrotia 45,000+
Myopia 45,000+
Autistic Behavior 45,000+
Midface Retrusion 70,000+
Gastroesophageal reflux 40,000+
Hypospadias 60,000+
Cryptorchidism 55,000+
Pes Planus 55,000+
Attention deficit hyperactivity disorder 45,000+
Tall Stature 70,000+
Single transverse palmar crease 55,000+
Absent Speech 70,000+
Hyperactivity 50,000+
Deeply Set Eye 50,000+
Pectus Excavatum 55,000+
Synophrys 45,000+
Broad Nasal Tip 50,000+
Long Face 55,000+
Atrial Septal Defect 45,000+
Ventricular Septal Defect 60,000+
Clinodactyly of the 5th finger 45,000+
Joint Hypermobility 40,000+
Telecanthus 55,000+
Malar Flattening 50,000+
Downturned Corners of Mouth 50,000+
Obesity 70,000+
Frontal Bossing 60,000+
Wide Nasal Bridge 55,000+
Neurological speech impairment
Low-set ears 40,000+
Triangular Mouth 35,000+
Prominent Eyelashes (thick eyelashes) 60,000+
Smooth Philtrum 55,000+
Small Earlobe 45,000+
Sleep Disturbance 50,000+
Short Thumb 70,000+
Short Neck 55,000+
Short Nasal Bridge (short bridge of nose) 45,000+
Short Attention Span 40,000+
Sensory Impairment 70,000+
Recurrent Viral Infections 45,000+
Prominent Nasal Bridge 50,000+
Open Mouth 55,000+
Muscle Spasms 45,000+
Long Eyebrows 70,000+
Inappropriate Behavior 45,000+
Hyperostosis (bone overgrowth) 70,000+
Thick Eyebrows 55,000+
Growth Delay (poor growth) 45,000+
Cardiomyopathy (disease of the heart muscle) 55,000+
Brittle Scalp Hair 70,000+
Webbed Neck 40,000+
Visual Impairment (poor eyesight) 45,000+
Sparse Hair (decreased hair growth) 45,000+
Short Nose (small nose) 45,000+
Self-injurious behavior 60,000+
Scoliosis (curving of the spine) 50,000+
Plagiocephaly (Flat Head) 45,000+
Hypoplastic Nasal Tip 50,000+
Hypoplastic male external genitalia 45,000+
Hypoplastic Fingernail 45,000+
Hyperpigmentation of the skin 50,000+
High Forehead 30,000+
Hernia 55,000+
Full Cheeks 45,000+
Flared Nostrils 40,000+
Finger Symphalangism 55,000+
Craniofacial Asymmetry 45,000+
Chronic Otitis Media 60,000+
Cat Cry 20,000+
Cafe-au-lait Spot 55,000+
Bulbous Nose 50,000+
Broad Thumb 50,000+
Broad Forehead 70,000+
Brachydactyly 70,000+
Brachycephaly 45,000+
Ataxia 70,000+
Abnormal Facial Shape 60,000+
Failure to Thrive 45,000+
Global Developmental Delay 60,000+
Hearing Impairment 70,000+
High Palate 45,000+
Narrow Forehead 45,000+
Pierre Robin sequence 50,000+
Pointed Chin 40,000+
Polyphagia (Overeating) 45,000+
Ptosis (Drooping Eyelid) 40,000+
Seizures (epilepsy) 50,000+
Short Stature 45,000+
Sleep Apnea 45,000+
Sparse/Absent Eyelashes 60,000+
Hirsutism 45,000+
Hypotonia 45,000+
Infantile Axial Hypotonia 20,000+
Intellectual Disability 40,000+
Microcephaly 50,000+
Motor Delay 50,000+
Dyspnea 40,000+
Delayed Speech and Language Development 70,000+
Anteverted Nares 40,000+
Low-set, posteriorly rotated ears 45,000+
Abnormal Heart Morphology 50,000+
Strabismus (cross eyes) 70,000+
Talipes Equinovarus (clubfoot) 50,000+
Thick Lower Lip Vermilion (full lower lip) 35,000+
Thick Upper Lip Vermillion (full upper lip) 30,000+
Toe Syndactyly (fused toes) 45,000+
Wide Mouth 50,000+
Deep-set Eyes 70,000+
Corneal Opacity 45,000+
Cognitive Impairment 55,000+
Coarse Facies 45,000+
Broad Toe 50,000+
Absent Eyebrows 75,000+
Abnormality of the skin 70,000+
Depressed Nasal Ridge 70,000+
Macrocephaly 65,000+
Cleft Palate | Cleft Lip 60,000+
Dysphonia 55,000+
Recurrent Otitis Media (Recurrent Ear Infections) 50,000+
Autism Spectrum Disorder 45,000+
Epicanthus | Epicanthal Folds 40,000+
Long Palpebral Fissures (long opening between the eyelids, strange eye shape) 100,000+
Depressed Nasal Bridge (depressed bridge of nose) 40,000+
Hypertelorism (widely-spaced eyes) 50,000+
Deep Philtrum | Long Philtrum 35,000+
Triangular Face 120,000+
Down Slanted Palpebral Fissures (crying, sad eyes) 200,000+
* Le total détecté est basé sur les données de FDNA.com. Les chiffres représentent une démonstration d'un symptôme comme suggestion symptôme dans notre outil d'IA.

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