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Participant 051


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Male, age 4 with Helsmoortel-van der Aa syndrome

Date of Report

Feb 01, 2018

Description

The patient was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal (anal stenosis). At 6 months of age, his parents started having concerns about his development when his motor and speech skills were not progressing as expected.

He has had a gastrostomy tube (G-tube) placed for feeding concerns since he was 10 months old. Recently, he was diagnosed with autism.

Symptoms / Signs
  • Global developmental delay
  • Autism
  • Growth delay
  • Feeding and growth difficulties in infancy (failure to thrive)
  • Short stature
  • Low muscle tone (hypotonia)
  • Low thyroid hormone production since birth (congenital hypothyroidism)
  • Small head size (microcephaly)
  • Underdeveloped facial muscles (hypoplasia of facial musculature)
  • Downslanted eyes (downslanted palpebral fissures)
  • Eyes turned inwards (esotropia)
  • Square ears
  • Small jaw (micrognathia)
  • Acid reflux (gastroesophageal reflux)
  • Abnormality of the trachea (consistent with laryngotracheal malacia)
  • Snoring
  • Restless sleep
  • Mild curving of the pinky (mild bilateral clinodactyly)
  • Heart defect (patent foramen ovale)
  • Two ureters connected to left kidney (renal duplication)
  • Abdominal wall defect (omphalocele)
  • Narrowing of the anal canal (anal stenosis)
  • Flat feet (pes planus)
Current Treatments
  • Atrovent, Advair – asthma
  • Miralax, Senexon – constipation
  • Prevacid, Zantac – acid reflux
  • Singulair, Allegra, Flonase – allergies
  • Synthroid- low thyroid hormone production
Prior Treatments
  • G-tube- feeding concerns
  • Nissen fundoplication- acid reflux
  • Supraglottoplasty with lysis of aryepiglottic folds and removal of supra arytenoid tissues- abnormality of the trachea
  • Surgery to repair omphalocele and anal stenosis
  • Tonsillectomy and adenoidectomy- snoring
Considered treatments
Previously Considered Diagnoses
  • Cat-eye syndrome
  • CFC1-related condition
  • CHARGE syndrome
  • Jacobsen syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Robinow syndrome
  • Smith Lemli Optitz syndrome
  • Toriello-Carey syndrome
  • Townes-Brocks syndrome
  • Trisomy 18
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr20:49510708
NM_015339
c.539_542delTTAG
p.V180fs
Contact

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