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Participant 088


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Female, age 5, with short stature, hyper-extensible joints, fine hair, anemia, and leukocytosis

Date of Report

Sep 27, 2018

Description

Early on in life, the participant had a gastrostomy tube (G tube) placed because she was not growing as expected. Around this time, she was diagnosed with anemia and a high white blood cell count (leukocytosis). Currently she is very short and has pain in her knees and ankles. She also has hyper-extensible joints and thin, fine hair.

The participant was delayed in meeting some of her early motor milestones. She sat up on her own at 12 months and walked at 24 months. Currently she is in preschool and making progress.

Symptoms / Signs
  • Short stature (disproportionate short limb short stature)
  • Decreased body weight
  • Failure to thrive
  • Increased susceptibility to fractures
  • Joint hypermobility
  • Delayed skeletal maturation
  • Short foot
  • Small hands
  • Knock knee (genu valgum)
  • Asymmetric face
  • Fine hair
  • Close-set eyes (short palpebral fissure)
  • Short distance between the nose and lip (philtrum)
  • Narrow vertebral interpedicular distance
  • Anemia (microcytic)
  • High white blood cell count (leukocytosis)
  • Low levels of thyroid hormone (central hypothyroidism)
  • Joint pain (arthralgia)
  • Recurrent ear infections (otitis media)
Current Treatments
  • Albuterol, beclomethasone dipropionate, fluticasone propionate, Singulair – asthma
  • Levothyroxine – hypothyroidism
Prior Treatments
  • G tube – failure to thrive

 

Considered treatments
Previously Considered Diagnoses
  • Achondroplasia
  • Congenital disorder of glycosylation
  • Cystic fibrosis
  • Hypochondroplasia
  • Microdeletion/duplication syndrome
  • Noonan syndrome
  • Russell-Silver syndrome
Other Photographs
Genetic Variants of Interest
Contact

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

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