Mental retardation-blepharophimosis-obesity-web neck

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck

Diagnosis

History and Symptoms

General

  • Obesity

HEENT

  • Blepharophimosis
  • Webbed neck
  • Low hair line at nape
  • Small teeth
  • Small jaw
  • Glaucoma
  • Short head
  • Downturned mouth
  • Low set ears
  • Absent upper lip groove
  • Nystagmus
  • Short neck
  • Short nose
  • Sparse scalp hair
  • Upslanted space between eyelids
  • Posterior angulation of ears
  • Abnormal ears
  • Epicanthic folds
  • Wide set eyes
  • Sparse eyebrows
  • Absent eyebrows
  • Anteverted nostrils

Chest

  • Small nipples
  • Absent nipples
  • Narrow rib cage

Neurological

  • Mental retardation

Extremities

  • Short fingers
  • Curved fifth finger
  • Speech defect

Other

  • Abnormal shoulder blades

References

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