Sintomas genéticos raros

Saiba mais sobre os sintomas mais diagnosticados e sua relação com síndromes genéticas raras.

O que é um sintoma genético raro?

Os sintomas genéticos raros variam entre as síndromes e, mesmo para a mesma síndromes, podem variar amplamente entre os indivíduos em sua presença e gravidade.
Os sintomas associados a síndromes genéticas raras podem afetar o desenvolvimento físico e mental de um indivíduo. Eles podem se apresentar ao nascimento ou se desenvolver mais tarde na infância ou na vida. Alguns sintomas genéticos raros são progressivos e pioram com o tempo, enquanto outros podem ser atenuados com a idade.
Mais de uma característica ou sintoma genético raro deve ser identificável para iniciar a jornada diagnóstica de uma síndrome genética rara.

More than 250,000 cases successfully analyzed

Explore os mais detectados sintomas em nosso sistema (os números são globais e baseados nos dados de 120 países):

Sintoma Nome Total detectado *
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+
* Total detectado é baseado em dados de FDNA.com. Os números representam a exibição de um sintoma como uma sugestão sintoma em nossa ferramenta de IA.

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