background participants

Participant 051

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.


Male, age 4, with Helsmoortel-van der Aa syndrome caused by a change in the ADNP gene

Date of Report

Feb 01, 2018


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:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
chr20:g.49510712_ 49510715del

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


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.