background participants

Participant 124

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Female, age 11, with seizures, eye abnormalities (retinal coloboma, microphthalmia, strabismus) and severe global developmental delay

Date of Report

May 14, 2020


At birth, the participant was noticed to have folded ears (overfolding of the superior helices) and eye abnormalities (retinal coloboma, microphthalmia, strabismus).  At 3 months, she began to experience seizures (infantile spasms). Although a ketogenic diet helped the participant become seizure-free for 5 years, the seizures (generalized tonic-clonic, generalized myoclonic, focal seizures) returned.  She is currently having a couple per week on average. Brain abnormalities have been noted on MRI and a neurology exam at 1 year showed stiff and tight limbs (spasticity). Some of her other symptoms include feeding difficulties, curvature of the spine (scoliosis, kyphoscoliosis), and abnormal position of the intestines (intestinal malrotation).

Symptoms / Signs
  • Seizures (generalized tonic-clonic seizures, generalized myoclonic seizures, focal seizures with impairment of consciousness or awareness)
  • Severe global developmental delay
  • Absent speech
  • Inability to walk
  • Brain abnormalities (hypoplasia of the corpus callosum, enlarged cisterna magna, cerebral white matter atrophy, frontoparietal polymicrogyria, Perisylvian polymicrogyria, tethered cord)
  • EEG abnormality (generalized slow activity)
  • Eye abnormalities (retinal coloboma, microphthalmia, strabismus)
  • Stiff and tight limbs (spasticity)
  • Lack of coordinated movement (dysmetria)
  • Feeding difficulties
  • Obstructive sleep apnea
  • Left facial palsy
  • High palate
  • Extra teeth (hyperdontia)
  • Thin upper lip (thin vermilion border)
  • Narrow head shape (dolichocephaly)
  • Flattened cheekbones (malar flattening)
  • Long distance between upper lip and nose (long philtrum)
  • Downslanted and narrow eyes (downslanted palpebral fissures, narrow palpebral fissures)
  • Downturned corners of mouth
  • Prominent forehead
  • Folded ears (overfolding of the superior helices)
  • Thick eyebrows
  • Increased body hair (hirsutism)
  • Thick hair
  • Delayed gastric emptying (gastroparesis)
  • Pancreatitis
  • Abnormal position of the intestines (intestinal malrotation)
  • Recurrent urinary tract infections
  • Curvature of spine (scoliosis, kyphoscoliosis)
  • Extra vertebra
  • Extra set of ribs
  • Abnormality of the knees (knee flexion contracture, asymmetry of the patella)
  • Overlapping toe
  • Premature androgen production (premature adrenarche)
Current Treatments
  • Alendronate – osteoporosis
  • Clobazapam, Banzel, Diastat, ketogenic diet – seizures
  • Estradiol – premature androgen production
  • G tube placement
Prior Treatments
  • Gallbladder removal
  • GJ tube placement
  • Strabismus surgery
  • Spinal cord release surgery
Considered treatments
Previously Considered Diagnoses
  • CHARGE syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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