Dysmorphic features in Congenital Dysorders

Aka: Dysmorphic features in Congenital Dysorders

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II. Findings: Body Habitus

  1. Obesity in Prader-Willi Syndrome
  2. Short and stocky girl in Turner Syndrome
  3. Newborn macrosomia in Beckwith-Wiedemann Syndrome

III. Findings: Short Stature

  1. Down Syndrome
  2. Noonan Syndrome
  3. Prader-Willi Syndrome
  4. Russell-Silver Syndrome
  5. Skeletal Dysplasia
  6. Turner Syndrome
  7. Fetal Alcohol Syndrome
  8. Gluten-sensitive Enteropathy
  9. Cystic Fibrosis (typically age <2 at diagnosis)
  10. Cushing Disease
  11. Growth Hormone Deficiency
  12. Hypothyroidism
  13. Vitamin D Deficiency (Rickets)

IV. Findings: Tall Stature

  1. Growth Hormone Secreting tumors (Gigantism)
  2. Thyrotoxicosis
  3. Marfan Syndrome
  4. Homocystinuria
  5. Cerebral Gigantism (Soto Syndrome)
  6. Beckwith-Wiedemann Syndrome
  7. Congenital Adrenal Hyperplasia (Untreated, pubertal)
  8. Klinefelter Syndrome
  9. Obesity
  10. Precocious Puberty

V. Findings: Skull

  1. Craniosynostosis in Skeletal Dysplasia
  2. Craniotabes (softening of posterior skull bone, ping-ping ball feel)
    1. Vitamin D Deficiency (Rickets)
  3. Frontal bossing (prominent frontal forehead) in Sotos Syndrome

VI. Findings: Head

  1. Disproportionately large head in Skeletal Dysplasia
  2. Low posterior hairline in Turner Syndrome
  3. Microcephaly in Fetal Alcohol Syndrome

VII. Findings: Ears

  1. Dysplastic or folded in Down Syndrome
  2. Low set in Noonan Syndrome
  3. Thick helix in Noonan Syndrome

VIII. Findings: Face

  1. Triangular-shaped face in Noonan Syndrome, Russell-Silver Syndrome
  2. Midface hypoplasia in Hypopituitarism
  3. Moon facies in Cushing Syndrome
  4. Craniofacial abnormalities in Weaver Syndrome
  5. Facial Flushing in Sotos Syndrome
  6. Long narrow face in Sotos Syndrome

IX. Findings: Eyes

  1. Palpebral fissures (distance between upper and lower Eyelids)
    1. Upward slanted in Down Syndrome
    2. Downward slanted in Noonan Syndrome, Sotos Syndrome
    3. Narrow in Fetal Alcohol Syndrome
  2. Epicanthal folds
    1. Normal in some ethnicity (e.g. asian descent)
    2. Fetal Alcohol Syndrome
  3. Ptosis
    1. Noonan Syndrome
  4. Sclera
    1. Blue Sclera in Russell-Silver Syndrome
  5. Congenital Cataracts in Skeletal Dysplasia

X. Findings: Nose

  1. Flat Nasal Bridge in Down Syndrome, Fetal Alcohol Syndrome
  2. High or prominent Nasal Bridge in Noonan Syndrome, Russell-Silver Syndrome

XI. Findings: Mouth

  1. Downward turned in Russell-Silver Syndrome
  2. Thin upper lip in Fetal Alcohol Syndrome
  3. High arched Palate in Turner Syndrome
  4. Smooth philtrum (depression between nose and mouth) in Fetal Alcohol Syndrome
  5. Macroglossia in Beckwith-Wiedemann Syndrome

XII. Findings: Jaw

  1. Micrognathia in Russell-Silver Syndrome
  2. Prominent, narrow jaw in Sotos Syndrome

XIII. Findings: Neck

  1. Webbed Neck in Turner Syndrome

XIV. Findings: Long bones

  1. Fractures in Skeletal Dysplasia
  2. Extremity bowing in Rickets

XV. Findings: Arms

  1. Increased Arm Span in Klinefelter Syndrome

XVI. Findings: Hands

  1. Bulbous wrists in Rickets
  2. Transverse palmar crease (simian crease) in Down Syndrome
  3. Short Fourth Metacarpal in Turner Syndrome

XVII. Findings: Nails

  1. Hypoplastic nails in Skeletal Dysplasia

XVIII. Findings: Feet

  1. Clubfoot in Skeletal Dysplasia

XIX. Findings: Chest

  1. Pectus Excavatum in Noonan Syndrome
  2. Shield-shaped chest in Turner Syndrome

XX. Findings: Abdomen

  1. Violaceous striae in Cushing Syndrome
  2. Omphalocele in Beckwith-Wiedemann Syndrome

XXI. Findings: Breasts

  1. Widely-spaced nipples in Turner Syndrome

XXII. Findings: Genitourinary

  1. Hypogonadism in Prader-Willi Syndrome
  2. Micropenis in Hypopituitarism

XXIII. Findings: Endocrine

  1. Hypoglycemia in Beckwith-Wiedemann Syndrome
  2. Feminization
    1. Sparse facial and body hair in Klinefelter Syndrome
    2. High pitched voice in Klinefelter Syndrome

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