Rare Genetic Symptoms

Understand more about the most diagnosed symptoms and their relation to rare genetic syndromes.

What is a Rare Genetic Symptom?

Rare genetic symptoms vary between syndromes, and even for the same syndrome may vary widely amongst individuals in their presence and severity.
The symptoms associated with rare genetic syndromes may affect the physical and mental development of an individual. They may present at birth or develop later in childhood or life. Some rare genetic symptoms are progressive and worsen with time, while others may be alleviated with age.
More than one rare genetic symptom or feature must be identifiable to begin the diagnostic journey for a rare genetic syndrome.

More than 250,000 patients successfully analyzed

Explore the most detected symptoms in our system (numbers are global and based on the data from 120 countries):

Symptom Name Total Detected*
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 Detected is based on data from FDNA.com. The numbers represent a showing of a symptom as a suggested symptom in our AI tool.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!