Gout, intellectual disability, self-mutilating behavior in a
boy

1. Syndrome
2. Enzyme affected
3. Inheritance Pattern

Situs inversus, chronic sinusitis, bronchiectasis, infertility

1. Syndrome
2. Defect

Blue Sclera

1. Disease
2. Defect

Elastic skin, hypermobility of joints, Increased bleeding tendency

1. Disease

Café-au-lait spots (unilateral), polyostotic fibrous
dysplasia, precocious puberty, multiple endocrine
abnormalities

Infant with cleft lip/palate, microcephaly or
holoprosencephaly, polydactyly, cutis aplasia

Infant with microcephaly, rocker-bottom feet, clenched
hands, and structural heart defect

Dilated cardiomyopathy, edema, alcoholism or
malnutrition

Dermatitis, dementia, diarrhea

Swollen gums, mucosal bleeding, poor wound healing,
petechiae

Chronic exercise intolerance with myalgia, fatigue,
painful cramps, myoglobinuria

Infant with hypoglycemia, hepatomegaly
(Glycogen Storage Disease)

Myopathy (infantile hypertrophic cardiomyopathy),
exercise intolerance

“Cherry-red spots” on macula

Hepatosplenomegaly, pancytopenia, osteoporosis,
avascular necrosis of femoral head, bone crises

Achilles tendon xanthoma

Anaphylaxis following blood transfusion
(Ig Deficiency)

Male child, recurrent infections, no mature B cells

Recurrent cold (noninflamed) abscesses, eczema, high
serum IgE, Increased eosinophils

“Strawberry tongue”

Abdominal pain, diarrhea, leukocytosis, recent antibiotic
use

Back pain, fever, night sweats

Adrenal hemorrhage, hypotension, DIC

Red “currant jelly” sputum in alcoholic or diabetic
patients

Large rash with bull’s-eye appearance

Ulcerated genital lesion

Pupil accommodates but doesn’t react

Smooth, moist, painless, wart-like white lesions on
genitals

Fever, chills, headache, myalgia following antibiotic
treatment for syphilis

Dog or cat bite resulting in infection

Rash on palms and soles

Black eschar on face of patient with diabetic ketoacidosis

Chorioretinitis, hydrocephalus, intracranial calcifications

Child with fever later develops red rash on face that
spreads to body

(viral, also causes aplastic anemia)

Fever, cough, conjunctivitis, coryza, diffuse rash

Small, irregular red spots on buccal/lingual mucosa with
blue-white centers

Bounding pulses, wide pulse pressure, diastolic heart
murmur, head bobbing

Systolic ejection murmur (crescendo-decrescendo)

Continuous “machine-like” heart murmur

Chest pain on exertion

Chest pain with ST depressions on ECG

Chest pain, pericardial effusion/friction rub, persistent
fever following MI

Painful, raised red lesions on pads of fingers/toes

Painless erythematous lesions on palms and soles

Splinter hemorrhages in fingernails

Retinal hemorrhages with pale centers

Distant heart sounds, distended neck veins, hypotension

Cervical lymphadenopathy, desquamating rash, coronary
aneurysms, red conjunctivae and tongue, hand-foot
changes

Palpable purpura on buttocks/legs, joint pain, abdominal
pain (child), hematuria

Telangiectasias, recurrent epistaxis, skin discoloration,
arteriovenous malformations, GI bleeding, hematuria

Skin hyperpigmentation, hypotension, fatigue

Cutaneous flushing, diarrhea, bronchospasm

Cold intolerance, weight gain, brittle hair

Cutaneous/dermal edema due to deposition of
mucopolysaccharides in connective tissue

Facial muscle spasm upon tapping

No lactation postpartum, absent menstruation, cold
intolerance

Deep, labored breathing/hyperventilation

Pancreatic, pituitary, parathyroid tumors

Thyroid tumors, pheochromocytoma,
ganglioneuromatosis, Marfanoid habitus

Thyroid and parathyroid tumors, pheochromocytoma

Jaundice, palpable distended non-tender gallbladder

Vomiting blood following gastroesophageal lacerations

Dysphagia (esophageal webs), glossitis, iron deficiency
anemia

Enlarged, hard left supraclavicular node

Arthralgias, adenopathy, cardiac and neurological
symptoms, diarrhea

Severe RLQ pain with palpation of LLQ

Severe RLQ pain with deep tenderness

Hamartomatous GI polyps, hyperpigmented macules on
mouth, feet, hands, genitalia

Multiple colon polyps, osteomas/soft tissue tumors,
impacted/supernumerary teeth

Golden brown rings around peripheral cornea

Fat, female, forty, fertile

Painless jaundice

Bluish line on gingiva

Short stature, café-au-lait spots, thumb/radial defects,
increased incidence of tumors/leukemia, aplastic anemia

Red/pink urine, fragile RBCs

Painful blue fingers/toes, hemolytic anemia

Petechiae, mucosal bleeding, prolonged bleeding time

Fever, night sweats, weight loss

Skin patches/plaques, Pautrier microabscesses, atypical
T cells

WBCs that look “smudged”

Neonate with arm paralysis following difficult birth, arm
in “waiter’s tip” position

Anterior drawer sign ⊕

Bone pain, bone enlargement, arthritis

Swollen, hard, painful finger joints in an elderly
individual, pain worse with activity

Sudden swollen/painful big toe joint, tophi

Dry eyes, dry mouth, arthritis

Urethritis, conjunctivitis, arthritis in a male

Anticentromere antibodies

Dark purple skin/mouth nodules in a patient with AIDS

Anti-desmoglein (anti-desmosome) antibodies

Pruritic, purple, polygonal planar papules and plaques
(6 P’s)