background participants

Participant 056


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Male, age 30 with GDF11-associated multiple congenital anomalies and intellectual disability

Date of Report

Mar 07, 2018

Description

After the participant was born, he stayed in the hospital for a month because of breathing problems and no suck. He was very floppy and his development was delayed; he sat at the age of 3 and walked at the age of 8. He currently does not speak, but uses a few signs and follows directions. He is able to walk with his knees bent.

Some of his other symptoms include seizures, brain abnormalities (abnormality and agenesis of corpus callosum, polymicrogyria), enlarged aorta (aortic dilatation), curved spine (scoliosis), and hearing impairment. He also has cataracts and nearsightedness (myopia). Recently he was diagnosed with GDF11-associated multiple congenital anomalies and intellectual disability.

Symptoms / Signs
  • Intellectual disability
  • Seizures
  • Abnormality of the brain (abnormality and agenesis of corpus callosum, polymicrogyria)
  • Abnormally shaped veins (venous malformation)
  • Low muscle tone (muscular hypotonia)
  • Coarse facial features
  • Large head (macrocephaly >+2SD)
  • Broad forehead
  • Thick hair (coarse hair)
  • Low hairline on forehead (low anterior hairline)
  • Widow’s peak
  • Eye fold (epicanthus)
  • Blurred lens of the eye (cataract)
  • Nearsightedness (myopia)
  • Hearing impairment
  • Wide nose
  • Forward inclined nostrils (anteverted nares)
  • Flat nose (depressed nasal bridge)
  • Curved nose (concave nasal ridge)
  • Deep cavity between nose and upper lip (deep philtrum)
  • Protruding jaw (mandibular prognathia)
  • High palate
  • Small teeth (microdontia)
  • Enlarged aorta (aortic dilatation)
  • Curved spine (scoliosis)
  • Gallstones (cholelithiasis)
  • Abnormality of urethra (hypospadias)
  • Bladder dysfunction (neurogenic bladder)
  • Prominent fingertips (prominent fingertip pads)
  • Overlapping toe
Current Treatments
  • Seizure medications
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Fragile X syndrome
  • Microdeletion/duplication syndrome
  • PTEN hamartoma tumor syndrome
  • MED12 related condition
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr12: 56143450
NM_005811.4
c.1008C>G
p.Tyr336Ter
Contact

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

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