Conditions List



ConditionName

Symptoms

PhysicalFindings

ClinicalTests

IsRedFlag
Actinic keratoses
While most people see only a change to their skin, an AK can: Itch; Burn or sting Feel tender or painful when touched; Stick to your clothing, causing discomfort' Bleed;
Acute Medication Poisoning
Bowen Disease
Cherry angioma
Ddx: Angiokeratoma; Spider telangiectasis; Pyogenic granuloma; Nodular basal cell carcinoma; Amelanotic melanoma.
Chronic Hypercalcemia
Crigler-Najjar Syndrome
Dermatofibromas
Epidermal nevi
Gestational Diabetes (Diabetes Mellitus in Pregnancy)
Hashimoto Thyroiditis (Autoimmune Thyroiditis; Chronic Lymphocytic Thyroiditis)
Fatigue and sluggishness; Increased sensitivity to cold; Increased sleepiness; Constipation; Muscle weakness; Muscle aches, tenderness and stiffness; Irregular or excessive menstrual bleeding; Depression; Problems with memory or concentration; Dry skin; Joint pain and stiffness; Swelling of the thyroid (goiter); A puffy face; Brittle nails; Hair loss; Enlargement of the tongue;
Hidradenitis Suppurativa
Idiopathic guttate hypomelanosis
Insulin Resistance
Extreme thirst or hunger; Feeling hungry even after a meal; Increased or frequent urination; Tingling sensations in hands or feet; Feeling more tired than usual; Frequent infections; Evidence of high blood sugar levels in blood work; Evidence of high blood sugar levels in blood work;
Keloid
Keratoacanthoma
Lentigo maligna
Macrophage activation syndrome
Mast Cell Activation Syndrome (MCAS)
Melanocytic nevi
Melasma
Milia
Myxoid cyst
Pitt-Hopkins Syndrome
Muscle tone and motor development Hypotonia (floppiness in infancy) Delayed motor milestones (sitting, walking) Need for bracing due to loose ankles Some children may never walk Unsteady gait, wide-based walking Lack of coordination (ataxia), clumsiness Speech and communication Severe speech delay Some can say a few words; many are nonverbal Better receptive language skills than expressive Benefit from assistive communication devices (picture boards, tablets) Some can learn sign language Cognitive and intellectual development Moderate to severe intellectual disability Difficult to assess due to speech and motor issues Some children may have higher cognitive abilities than reported Facial and physical features Wide mouth with full lower lip Widely spaced teeth Flared nostrils, broad nasal bridge Sharp, downturned nasal tip Mildly cup-shaped ears Deep-set eyes with upward slant and prominent supraorbital ridge Cupid’s bow upper lip, full cheeks Prominent lower face and chin Features may become more pronounced with age Breathing abnormalities Episodes of rapid breathing (hyperventilation) Periods of breath-holding or apnea crises Cyanosis (bluish skin due to lack of oxygen) Triggered by stress, emotions, or fatigue Typically absent during sleep Onset varies (7 months to 7 years) Behavioral traits Sociable and happy disposition Frequent laughing and smiling (sometimes inappropriate) Some children may be quiet or withdrawn Episodes of aggression, shouting, agitation Hyperactivity, anxiety, self-injury, shyness Stereotypic hand movements: Hand clapping, flapping, flicking, washing, finger crossing Frequent hand-to-mouth movements Head shaking, head banging, body rocking Teeth grinding (bruxism), hair pulling Repetitive toy play, fixation on specific objects Seizures and neurological issues Occur in nearly half of affected individuals Onset varies (birth to teenage years) Gastrointestinal issues Chronic constipation (often severe) Gastroesophageal reflux (reported in some cases) Pain sensitivity High pain threshold Other medical conditions Excessive drooling (especially in young children) Severe nearsightedness (myopia) Crossed eyes (strabismus) Astigmatism (abnormal curvature of the eye lens) Scoliosis (curved spine, in some cases) Cryptorchidism (undescended testicles in males) Hand and foot abnormalities Broad fingertips, tapered fingers, curved pinkies (clinodactyly) Single crease across the palm Prominent fetal pads on fingertips and toes Extra crease or absent crease on the thumb Some individuals cannot bend the thumb (absent tendon) Redness and swelling at nail bases Nail clubbing (blunted nail angle) Overriding toes Hands and feet may appear cold or bluish due to cyanosis
Pyogenic granuloma
Rhinophyma
Sebaceous hyperplasia
Seborrheic keratoses
Skin tags
Solar lentigo
Venous lake
Back to list of Conditions