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Participant 153


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Male, age 24 with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot) and global developmental delay

Date of Report

Nov 19, 2019

Description

The participant was born after a normal and uncomplicated pregnancy. At birth, his left foot was rotated and his right hip was dislocated. At 6 months old, he was noted to have a small head size (microcephaly), low muscle tone (hypotonia), and some facial differences. He was also not reaching his developmental milestones as expected. Around 1 year, the participant was found to have seizures.

At age 14, the participant was diagnosed with an immune deficiency and Hodgkin’s lymphoma, which is now in remission.

The participant also has some skeletal differences such as a sunken chest (pectus excavatum), abnormal wrist bones (Madelung deformity), and increased curvature of the spine (scoliosis). He had surgery for his scoliosis as well as a total hip replacement. The participant has impaired language development and intellectual disability. He is able to walk independently; however, he is unsteady and often uses a wheelchair.

He attended a public school with an individual education plan (IEP) and graduated at 21. In public school, he worked on life skills for after graduation. He currently lives with a family who provide home care for him and he also attends a day program for 30 hours every week. Currently he is enrolled in a reading class and enjoys buying gifts for people, visiting others who need encouragement, crafting, going to the gym, and attending church. He helps take care of the dogs he lives with and loves playing with children. He is very happy and loves telling jokes.

Symptoms / Signs
  • Global developmental delay
  • Seizures
  • Intellectual disability
  • Short stature
  • Small head size (microcephaly)
  • Abnormal facial shape
  • Nearsighted (myopia)
  • Cataracts (lamellar)
  • Protruding ear
  • Thin upper lip (thin upper lip vermillion)
  • Missing teeth (hypodontia, oligodontia)
  • Sunken chest (pectus excavatum)
  • Increased curvature of the spine (scoliosis)
  • Abnormal wrist bones (Madelung deformity)
  • Finger joint hypermobility
  • Joint hypermobility
  • Joint laxity
  • Underdeveloped hip joints (hip dysplasia)
  • Delayed skeletal maturation
  • Club foot (talipes equinovarus)
  • Enlarged spleen (splenomegaly)
  • Inflamed bile ducts (biliary cirrhosis)
  • Low blood platelet count (thrombocytopenia)
  • Cancer in the lymphatic system (Hodgkin’s lymphoma)
  • Elevated levels of lactate in the blood (increased serum lactate)
  • Delayed puberty
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X syndrome
  • Micro-deletion/duplication syndrome
  • Mitochondrial disease
  • Prader-Willi syndrome
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
Chr3:149678664
NM_007282.4
c.919G>T
p.E307*
Contact

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

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