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pp016-imageMale, age 8 with Floating Harbor syndrome

Date of Report December 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
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
Genetic Variants of Interest Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
SRCAP* Autosomal dominant Chr16:30748664 NM_006662 c.7303C>T p.R2435X
*Database Links:
GeneCards: GC16P030700 NCBI Gene: 10847 OMIM: 611421 UniProtKB/Swiss-Prot: Q6ZRS2
Contact
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Email: UDN@hms.harvard.edu
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