Frank Ter Haar Syndrome
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Frank Ter Haar Syndrome Overview

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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
Referral may be required
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.

Elite in Frank Ter Haar Syndrome
Elite in Frank Ter Haar Syndrome
Referral may be required
19-21 Gyömrői St, 
Budapest, BU, HU 

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

 
 
 
 
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Advanced in Frank Ter Haar Syndrome
Advanced in Frank Ter Haar Syndrome
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. 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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center