Symptoms -

Symptoms Directory

Identify possible conditions and treatments related to your symptoms. Below is an alphabetical listing of common symptoms. Select the symptom to view related conditions and its details.

A drooping eyelid and decreased sweating on the affected side of the face

A high-arched palate (roof of the mouth)

A long area between the nose and mouth (philtrum)

A notable difference in pupil size between the two eyes (anisocoria)

A persistently small pupil (miosis)

A prominent lower face

A sensation of tightness

A tongue that's more posteriorly positioned due to the small jaw

A weak grip – you might drop things

A widow's peak hairline (a v-shaped point in the hairline in the centre of the forehead is termed as widow's

Abdominal cramps

Abdominal issues

Abnormal (not typical) movements or seizures

Abnormal and excessive hair growth

Abnormal blood pressure

Abnormal bone marrow cells

Abnormal calcium deposits

Abnormal dental enamel morphology

Abnormal formation of the teeth

Abnormal growth

Abnormal growth delays before birth (intrauterine growth retardation)

Abnormal heart rate

Abnormal hormone levels

Abnormal movements

Abnormal muscle stiffness (spasticity)

Abnormal pupils

Abnormal sensation

Abnormal sexual development

Abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis) or concern for a spine abnormality

Abnormal skeletal development

Abnormal skin pigmentation

Abnormal thinness

Abnormalities in the inner corner of eyes

Abnormalities of the brain and eyes

Abnormality of the inner ear

Above-average birth weight

Absence of reflexes

Absent eyebrows

Absent eyelashes

Absent or impaired bowel function b

Acid reflux and poor intestinal motility cause feeding difficulties

Altered visual perception

An abnormally short neck

An opening in the roof of the m

An underdeveloped jaw and small chin

And a small lower jaw (micrognathia

And abnormal movements and postures

And arms) (which cause jerks or twitches of the upper body

And dietary changes

And elbow weakness or limpness

And face are usually spared

And graying of colors

And hearing loss

And involuntary lateral movements of eyebloo

And middle ear anomalies

And spasticity. later onset: erratic behavior

And swallowingbloo

And tonic seizures (which induce stiffness of the bodily muscles

And undersized jawline

And weak muscle tone

And/or brain abnormalities

And/or webbing of the neck

Attacks of pain lasting from a few seconds to several minutes

Awkward movement of muscles

Blurred vision or blindness

Blurry central vision

Blurry vision or sensitivity to bright lights (photo

Brain abnormalities

Brain deterioration

Branchial cysts

Breast milk production

Breathing problems

Burning sensation to one side of the face

But not side-to-side (horizontally)

Decreased alertness and activity

Decreased fertility

Decreased muscle tone

Decreased pupil size

Decreased range of motion

Decreased reflexes

Decreased sensation

Defect in the eye

Delay and eventual loss of skills previously acquired

Delay in development

Delay in growth and development

Delay in tooth eruption

Delayed ability to roll over

Delayed ability to sit

Delayed bone age

Delayed development

Delayed fine motor skill development

Delayed gross motor development

Delayed mental development

Delayed speech and language development

Deterioration of motor function

Develop contractures

Developmental delays

Developmental disturbances

Developmental regression

Developmental retardation

Difficulties with speaking or understanding others (aphasia)

Difficulty breathing

Difficulty chewing

Difficulty concentrating

Difficulty in swallowing

Difficulty looking upward and opening eyes

Difficulty making judgments

Difficulty reading

Difficulty speaking

Difficulty swallowing

Difficulty swallowingblood in e

Difficulty walking

Difficulty with balance

Difficulty with speech or swallowingblood in e

Diminished muscle tone

Discolored skin

Distal sensory impairment

Distinctive facial features

Distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal

Distinctive malformations of the skull a

Distractibility

Dizziness with vertigo

Double vision or loss of peripheral vision

Drooping of the upper eyelid (ptosis)

Dysplastic nevi are large

Gait instability

Gastrointestinal problemsblood in

Gazing constantly

General weakness

Genital anomalies

Genital underdevelopment

Gradual loss of sensation or

Gray or black due to the chronic accumulation of homogentisic acid

Growth retardation

Hair loss (called alopecia)

Hands and feet are smaller than normal

Have a weak cry

Have moles called dysplastic nevi

Having unusual emotional outbursts

Headaches that gradually become more frequent and more severe

Hearing loss or ringing in the ears (tinnitus)

High blood pressure

High-pitched voice

Hoarseness of voice

Hyperorality and dietary changes. socially inappropriate behavior

Hyperpigmentation

Hyperreflexia or areflexia

Hypophosphatemic rickets

Idiosyncratic behaviors

Impaired brain function

Impaired coordination

Impaired muscle coordination

Impaired thinking

Impaired vision

In many cases it is not ideally round but slightly ovally distorted

In many individuals

In which connective tissue such as cartilage turns blue

Inability to completely open mouth

Inability to tolerate heat or cold

Including a triangularly shaped face

Increased blood pressure

Increased heart rate

Increased sensitivity to cold and heat

Individuals can move their eyes up and down (vertically)

Infants often have characteristic abnormalities of the head and face

Inflammation of the painful area

Inside bend of the e

Intellectual deficits

Jerking movements

Jerky movements

Joint deformities

Joints that are bent in a fixed position (contractures)

Kidney abnormalities

Kidney problems

Knees that are abnormally close together (knock knees or genu

Lack of appetite

Lack of bone fusion

Lack of controlled movement of a body part

Lack of coordination

Lack of facial expressi

Lack of feeling

Lack of typical reflexes

Language disturbances

Language problems

Learning disabilities

Lethargy (worsens over time and can lead to coma)

Life-threatening breathing difficulties

Like crying or laughing at unexpected times

Limitation of movement

Limited facial expressions and other peculiar mannerisms

Little neurological development

Little or delayed opening (dilation) of the affected pupil in dim light

Liver or lymph nodes

Liver or lymph nodes abnormal hormone levels abnormal bone marrow cells skin changes

Locomotion disturbances

Loss of accurate color discrimination and visual acuity

Loss of appetite

Loss of awareness or consciousness

Loss of balance

Loss of balance with gait instability

Loss of comprehension

Loss of consciousness

Loss of motor skills

Loss of muscle control

Loss of muscle strength or coordination

Loss of night vision

Loss of normal fear and anger responses

Loss of range of motion

Loss of reflexes

Loss of sensation

Loss of social decor

Loss of strength in the arms and legs

Low birth weight

Low birthweight

Low blood sugar

Low muscle tone

Low or high muscle tone

Low-grade fever

Narrow shoulders

Nausea or vomiting anemia or bleeding disorders bone and muscle pain enlarged liver

Nerve condition in the shoulder and arm that results in weakness or loss of muscle function

Neurogenic bladder

Neurological abnormalities

Neurological deficits

Neurological degeneration

Neurological deterioration

Neurological dysfunction

Neurological impairment

Neurological manifestations: autism

Neurological problems

Neurological signs including athetoid

New onset or change in pattern of headaches

No speaking abilities

Numbness and/or a tingling sensation

Numbness of face

Numbness or paralysis in your face

Numbness or tingling

Numbness or tingling in your arm or hand

Pain in the area below the ribs on the back (flank) that doesn't go away

Pain in the arms or legs – described as sharp

Pain in the eye

Pain or burning sensation

Pain that is constantly burning or throbbing

Pain that occurs with facial spasms

Pain when urinating

Pain while urinating

Painful eye movements

Paralysis or limpness of the shoulder

Paroxysmal headache that is not of typical migraine pattern

Partial seizures

Passing of blood with bowel movements

Patients may also present muscle weakness

Peeling skin rash

Periodontal issues

Permanently bent fingers (camptodactyly)

Persistent infections

Personality changes

Photosensitivity

Pins and needles

Poor breathing or no spontaneous breathing at all

Poor coordination and trembling of the extremities

Poor decision making skills

Poor feeding habits

Poor muscle tone

Poor sexual functioning

Poor social interactions

Poor weight gain

Premature closing of the soft spot on the head

Prematurely aged appearance

Problems in the articulation of speech

Problems seeing

Problems with breathing

Problems with cognitive and emotional regulation

Problems with eyesight

Profound intellectual disability and seizuresblood i

Prognathism (a protruding lower jaw)blood in eye

Progressive narrowing of visual field

Progressive supranuclear palsy- becoming more forgetful and cranky

Prominent forehead

Protruding eyes

Pseudomyotonia (delayed relaxation followed by contraction)

Psychological signs like worry

Scalp numbness. nausea. feeling tired or depressed. headaches. difficulty speaking

Seizures (in later stages)

Sensitivity to sound

Sensory hearing loss

Serious brain findings

Severe delays in the acquisition of skills requiring the coordination of mental and motor activities

Severe growth failure

Severe or sudden back pain

Severe to profound mental retardation

Shooting or jabbing pain

Shooting or numbing

Short bursts of severe pain

Short muscle-tendons

Short muscles and tendons that result in limited mobility of the hands

Shortness of breath

Six or more café-au-lait spots of at least 5 millimeters [mm] in size (before puberty) or 15 mm in size (after puberty)

Skeletal abnormalities

Skin color changes

Skin infections

Skin temperature fluctuations

Skull in a triangular shape

Sleep disturbances

Sleeping longer and more often

Sleeping problems

Slight elevation of the lower lid

Slightly coarse facial features

Slow or unusual eye movements

Slowing of mental and motor development

Slurred speech and abnormal eye movements

Snoring and airway obstruction due to a tongue that falls toward the throat

Social abnormalities

Socially inappropriate behavior

Sowing of mental

Speaking difficulties

Speech difficulties

Speech disabilities

Speech problems

Spleen or lymph nodes depression

Spontaneous attacks of pain

Spontaneous sweating in response to food stimuli

Stereotyped speech

Stiff arms and legs (called spasticity)

Structural abnormalities

Structural heart defects

Such as blurred vision

Such as rigidity or muscle contracture (dystonia)

Such as seeing double or blurriness

Sweating after eating certain foods

Swelling and tenderness of the skin

Swelling of the brain (cerebral edema) caused by hyperammonemiablood

Swelling of the entire or just a portion of the arm

Systemic manifestations: joint stiffness

Talking more slowly than usual

Temporary confusion a staring spell

Temporary perplexity

The center degenerates (atrophies) such that older lesions have a reddish border with porcelain-white

The lesions may sometimes itch (pruritus)

The lesions start as reddish or pink bumps and eventually

The pupil is larger than normal (dilated) all the time and does not constrict very much or not at all in response to direct light

Thickening of the skin on the palm of your hand

Thickening skin

Thin upper lips

Thunderbolt headaches

Tight and painful muscle spasms in the arm

Tingling and burning

Tingling and weakness in your legs

Tingling and weakness in your legs enlarged spleen

Tingling or painful sensations in the hands or feet

Tingling sensation in arms

Too much fluid in the brain

Touch or cold sensitivity

Transient impaired conscious level

Tremors in the hands

Trouble controlling eye movements

Trouble speaking

Trouble swallowing

Twitching of the facial muscles

Two or more neurofibromas of any type or one plexiform neurofib

Typically on one side of your body

Uncontrollable arm and leg movements

Uncontrollable jerking movements of the arms and legs

Uncontrollable vomiting and hiccups

Uncoordinated movements

Underdeveloped facial muscles and surrounding bones

Underdeveloped genitals

Underdeveloped proportions

Underdeveloped upper jaw and lower jaw

Underdevelopment of the outer ear (microtia)

Unexplained fever

Unexplained nausea or vomiting

Union or webbing of the skin between the fingers (syndactyly)

Unless rupture in the vessels

Unsteady posture

Unsteady walking

Unusual facial features

Upper eyelid drooping

Urine that turns dark is present from birth

Usually in the arm

Usually those in the back

Variably pigmented moles

Vertebral anomalies bl

Vertebral defects

Vision impairment

Vision problems

Visual disturbances

Visual impairment

Vitamin d deficiency

Vomiting when ruptured

Yellow discoloration deep within the eyes and other ocular abnormalities may be present but vision is usually normalb

You cannot bend your elbow or lift your arm away from your body