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Participant 005

Shashi-Pena syndrome
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Male, age 8, with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome)

Interview (WRAL Channel 5)

Date of Report

Jul 01, 2016


Since infancy, the patient’s height, weight and head circumference have been above the 95th percentile, and X-rays have shown advanced bone age. He had two heart problems (ventricular septal defect, patent ductus arteriosus) that resolved on their own. At age 5, he was diagnosed with weak cartilage in the walls of his trachea and bronchial tubes (tracheomalacia and bronchomalacia). Currently he has a slightly prolonged QT interval, sleep apnea, and elevated liver enzymes (transaminases).

The patient also has atypical facial features, including a large birthmark on his forehead (glabellar hemangioma), widely spaced eyes (hypertelorism), a flat nasal bridge, slightly downslanting eyes (palpebral fissures), and small ears. He also has multiple small birthmarks (capillary hemangiomas) on his chest, upper arms, and neck.

Developmentally, the patient has shown learning difficulties and had mild developmental delays.

Symptoms / Signs
  • Increased body weight
  • Tall stature
  • Large head (macrocephaly)
  • Advanced bone age
  • History of heart defect (muscular ventricular septal defect)
  • Mild prolonged QT interval
  • Decrease in brain white matter (cerebral white matter atrophy)
  • Large birthmark on forehead (glabellar hemangioma)
  • Small birth marks on chest, upper arms, and neck (capillary hemangiomas)
  • Mild accumulation of fat in the liver (mild hepatic steatosis)
  • Elevated liver enzymes (transaminases)
  • Seizures during fever (febrile seizures)
  • High insulin and lipid levels (hyperinsulinemia, hyperlipidemia)
  • Insulin resistance
  • Abnormal copper balance (abnormality of copper homeostasis)
  • Mild sleep apnea (obstructive)
  • Weak cartilage in the walls of trachea and bronchial tubes (tracheomalacia and bronchomalacia)
  • Low-set and small ears (microtia)
  • Cupped and round ear
  • High palate
  • Downslanting eyes (downslanted palpebral fissures)
  • Skin of upper eyelid covers inner corner of eye (epicanthus)
  • Increased distance between eyes (telecanthus, hypertelorism)
  • Droopy eyes (ptosis)
  • Abnormality of the cornea (ovoid shaped corneas, horizontal>vertical)
  • Mild global developmental delay
  • Delayed speech and language development
  • Features of autism
  • Aggressive behaviors
Current Treatments
  • Topamax- aggressive behaviors
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Sotos syndrome
  • PTEN-related condition
  • Simpson-Golabi-Behmel syndrome
  • Beckwith-Wiedemann syndrome
  • Microdeletion/duplication syndrome
  • Fragile X syndrome
  • Noonan and Costello syndrome
  • Myasthenia gravis
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the patient’s symptoms (Shashi et al, 2016):

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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


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