background participants

Participant 084

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Female, age 10 with multiple congenital anomalies including choanal stenosis, Chiari 1 malformation, two-vessel short cord, right eye microphthalmia with coloboma, and heart defects (bicuspid aortic valve, hypoplasia of aortic arch)

Date of Report

Aug 10, 2018


The participant was born with a narrow nasal passageway (choanal stenosis), brain and spinal cord abnormalities (Chiari 1 malformation, syrinx), two-vessel short cord, eye abnormalities (right eye microphthalmia with coloboma), and heart defects (bicuspid aortic arch, hypoplasia of the aortic arch). Just after her second birthday, her parents noticed she had short stature; this is being treated with a growth hormone. She does not have any cognitive impairments.

Symptoms / Signs
  • Delayed skeletal maturation
  • Short stature
  • Growth hormone deficiency
  • Abnormality of connections between brain and spinal cord (tethered cord; Arnold-Chiari type I malformation)
  • Fluid-filled cyst on spinal cord (syringomyelia of cervical and thoracic spinal cord)
  • Short neck
  • Eye abnormalities (coloboma of right iris, retina and optic nerve; right eye lens subluxation and microphthalmia- wears a scleral ocular prosthesis in right eye; left eye astigmatism; hypertelorism)
  • Narrowing of nasal passageway (choanal stenosis)
  • Heart abnormalities (atrial septal defect; coarctation of aorta; patent ductus arteriosus; bicuspid aortic valve; left ventricular hypertrophy; prolonged QT; intermittent bradycardia)
  • Protruding sternum (pectus carinatum)
  • Intestines outside body at birth (omphalocele)
  • Extra spleen (accessory spleen)
  • Curved fingers (clinodactyly)
  • Curved spine (kyphosis)
  • Flat feet (pes planus)
  • Abnormalities of urinary tract (neurogenic bladder due to syrinx; abnormalities of bladder and urethra; kidney reflux)
  • Underdeveloped nipples (hypoplastic nipples)
Current Treatments
  • Growth hormone norditropin flex pro– short stature
  • Laxatives – constipation
  • Maxatrol – dry prosthetic eye
  • Nitrofuratoin – prophylactic antibiotic
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • 22q11.2 deletion syndrome
  • Alagille syndrome
  • Cat eye syndrome
  • CHARGE syndrome
  • Kabuki syndrome
  • Townes-Brocks syndrome
Other Photographs
Genetic Variants of Interest

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


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