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 cases 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*
	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+