background participants

Participant 113

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Male, age 1 with skeletal and brain anomalies, cloudy corneas, and adrenal insufficiency

Date of Report

Mar 08, 2019


During pregnancy, the participant was found to have poor growth (intrauterine growth restriction) and there was more amniotic fluid than normal (polyhydramnios). After birth, he had trouble breathing and low Apgar scores. He was found to have multiple skeletal anomalies (metaphyseal widening, tibial and fibular bowing, cervical spinal canal stenosis) as well as too much fluid in the kidneys (hydronephrosis). He was also found to have multiple heart abnormalities (patent ductus arteriosus, patent foramen ovale, dilation of ascending aorta). These resolved spontaneously over time. The participant has also been diagnosed with Alpha-1 antitrypsin deficiency.

The participant has delayed gross and fine motor skills but is able to make sounds and respond to his name.

Symptoms / Signs
  • Difficulty growing (failure to thrive)
  • Feeding difficulties
  • Severe short stature
  • Small head size (microcephaly)
  • Skull abnormality (abnormality of the occipital bone)
  • Underdeveloped nerve fibers joining the two hemispheres of the brain (hypoplasia of the corpus callosum)
  • Square face
  • Down slanting eyes (downslanted palpebral fissures)
  • Eyes turned inward (alternating esotropia)
  • Cloudy cornea (opacification of the corneal stroma)
  • Short nose
  • Flat nose bridge (depressed nasal bridge)
  • Broad jaw
  • Abnormal thumb (adducted thumb)
  • Curved pinky finger (clinodactyly of the 5th finger)
  • Short finger bones (short metacarpal)
  • Bowing of shinbones (tibial bowing, fibular bowing)
  • Widening long bones (metaphyseal widening)
  • Misalignment of vertebrae (C1-C2 subluxation)
  • Club foot (equinovarus deformity)
  • Spine abnormalities (cervical spinal canal stenosis, irregularity of vertebral bodies, platyspondyly, kyphosis)
  • Micropenis
  • Excess fluid in kidneys (hydronephrosis)
  • Central adrenal insufficiency
  • Tissue bulge (Inguinal hernia, Incisional hernia)
  • Alpha-1 antitrypsin deficiency
Current Treatments
  • G-tube –  feeding difficulties
  • Hydrocortisone – adrenal insufficiency
  • Lactulose – constipation
  • Omeprazole, ranitidine – gastroesophageal reflux disease
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Skeletal dysplasia
  • VACTERL association
Other Photographs
Genetic Variants of Interest

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


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