Frank Ter Haar Syndrome
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Learn About Frank Ter Haar Syndrome

What is the definition of Frank Ter Haar Syndrome?
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by genetic changes in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.
What are the alternative names for Frank Ter Haar Syndrome?
  • Frank Ter Haar syndrome
  • Autosomal recessive Melnick-Needles syndrome (formerly)
  • Megalocornea, multiple skeletal anomalies, and developmental delay
  • Ter Haar syndrome
Who are the top Frank Ter Haar Syndrome Local Doctors?
Elite in Frank Ter Haar Syndrome
Elite in Frank Ter Haar Syndrome
Budapest, BU, HU 

Virag Vas practices practicing medicine in Budapest, Hungary. Vas is rated as an Elite expert by MediFind in the treatment of Frank Ter Haar Syndrome. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Frank Ter Haar Syndrome, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

Advanced in Frank Ter Haar Syndrome
Advanced in Frank Ter Haar Syndrome

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Frank Ter Haar Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

 
 
 
 
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Experienced in Frank Ter Haar Syndrome
Pediatric Nephrology
Experienced in Frank Ter Haar Syndrome
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Frank Ter Haar Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center