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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, Chondrodystrophy, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Advanced in Frank Ter Haar Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in Frank Ter Haar Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Frank Ter Haar Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

 
 
 
 
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Cheng Her
Experienced in Frank Ter Haar Syndrome
Family Medicine
Experienced in Frank Ter Haar Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Frank Ter Haar Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

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