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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 in Budapest, Hungary. Vas is rated as an Elite expert by MediFind in the treatment of Frank Ter Haar Syndrome. Their top areas of expertise are Frank Ter Haar Syndrome, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

Philip L. Goolsby
Experienced in Frank Ter Haar Syndrome
Family Medicine
Experienced in Frank Ter Haar Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Frank Ter Haar Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Frank Ter Haar Syndrome
Family Medicine
Experienced in Frank Ter Haar Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Frank Ter Haar Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba Syndrome.

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