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Participant 052

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Female, age 5, with global developmental delay, rhythmic and repetitive movements (stereotypic movements), and difficulty feeding

Date of Report

Feb 01, 2018


Shortly after birth, the patient was noticed to have decreased tone and difficulty breathing. She struggled to drink from a bottle and would breathe liquids into her airway (aspirate). At 6 months, a G tube was placed. Currently she struggles with chewing and swallowing and is unable to drink out of a cup or straw.

The patient said her first words at 13 months and began walking at 22 months. She gets tired easily (easy fatigability) and makes rhythmic and repetitive movements with her upper and lower limbs (stereotypic movements).

She is currently enrolled in kindergarten in special education. Some of her other symptoms include increased heart rate (tachycardia), distinct physical features (small midface (hypoplasia of midface)), and difficulty controlling her body temperature.

Symptoms / Signs
  • Global developmental delay
  • Poor growth during pregnancy (small for gestational age)
  • Poor growth
  • Repetitive behaviors (stereotypic behavior)
  • Easily tired (easy fatigability)
  • Low muscle tone in the trunk (muscular hypotonia of the trunk)
  • Joints move easily beyond range of motion (joint hypermobility)
  • Sleep apnea
  • Sensory impairment
  • Difficulty controlling body temperature (abnormality of temperature regulation)
  • Low glucose (hypoglycemia)
  • Delayed closure of the skull (anterior fontanelle)
  • Protruding forehead (frontal bossing)
  • Small midface (hypoplasia of midface)
  • Curvature of the eye (astigmatism)
  • Farsighted (hypermetropia)
  • Acid reflux (gastroesophageal reflux)
  • Difficulty swallowing (dysphagia)
  • Difficulty inhaling (aspiration)
  • Lack of appetite
  • Lack of thirst (adipsia)
  • Increased resting heart rate (tachycardia)
  • Sunken chest (pectus excavatum)
  • Knee hyperextension (genu recurvatum)
  • Flat feet (pes planus)
  • Webbed toes (toe syndactyly)
Current Treatments
  • Omperazole- acid reflux
  • Vitamin D- family history of low vitamin D
  • Zyrtec, SINGULAIR, FLONASE- allergies
Prior Treatments
  • Cetirizine- allergies
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Prader-Willi syndrome
  • Rett syndrome
  • Russell Silver syndrome
  • West syndrome
Other Photographs
Genetic Variants of Interest

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