background participants

Participant 016


Floating Harbor syndrome

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.

Male, age 8 with Floating Harbor syndrome

 

 

Date of Report

Dec 22, 2016

Description

During the pregnancy with the patient, the patient’s mother had to use Levoxyl for Hashimoto’s thyroiditis. When the patient was born, the umbilical cord was wrapped around his neck and the placenta could not be delivered. He proceeded to spend 7 days in the NICU for feeding issues.

The patient has continued to have feeding issues and suffers from acid reflux, feeding aversions, vomiting, and constipation. His bone age is also delayed by about 3 years and he started growth hormone at age 7. He also has chronic ear infections and sleep apnea.

Developmentally, the patient has some delays. He has an individualized education program (IEP) and receives vision, speech, feeding, physical and occupational therapy.

Symptoms / Signs
  • Mild global developmental delay
  • Decreased body weight
  • Short stature
  • Delayed bone age (skeletal maturation)
  • Decreased muscle tone (muscular hypotonia)
  • Joint flexibility (hypermobility)
  • Excessive sweating (hyperhidrosis)
  • Sleep apnea
  • Small pituitary gland
  • Deeply set eyes
  • Long eyelashes
  • Involuntary eye movement (nystagmus)
  • Farsighted (hyperopic) astigmatism
  • Persistent pupillary membrane
  • Eye turns outward (exotropia)
  • Posteriorly rotated ears
  • Chronic ear infections (otitis media)
  • Underfolded helix
  • Small jaw (mild micrognathia)
  • Cleft palate
  • Misaligned teeth (dental malocclusion)
  • Split (bifid) uvula
  • Heart defect (left aortic arch with retroesophageal right subclavian artery)
  • Feeding difficulties
  • Constipation
  • Vomiting
  • Acid reflux (gastroesophageal reflux)
  • Prominent fingertip pads
  • Broad fingertips
  • Three bones in thumbs instead of two (triphalangeal thumbs)
  • Bent 5th finger (clinodactyly)
  • Kidney (renal) cyst
  • Hypospadias
  • Blood in urine (hematuria)
  • Narrowing of the urethra (urethral stenosis)
  • Knee pain (arthralgia)
  • Small (aplastic/hypoplastic) toenails
  • Prominent digit pads
  • Broad 1st toe
Current Treatments
  • Omnitrope- decreased body weight and short stature
Prior Treatments
  • Submucousal cleft repair- cleft palate
  • Myringotomy with tubes- ear infections
  • Tonsillectomy- sleep apnea
  • Meatoplasty and urethral calibration- meatal stenosis and mild hypospadias
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
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
chr16: 30748664
NM_006662
c.7303C>T
p.R2435X
Contact

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

Disclaimer

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.