Osteopathia Striata Cranial Sclerosis
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Learn About Osteopathia Striata Cranial Sclerosis

What is the definition of Osteopathia Striata Cranial Sclerosis?
Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.
What are the alternative names for Osteopathia Striata Cranial Sclerosis?
  • Osteopathia striata cranial sclerosis
  • Hyperostosis generalisata with striations
  • OSCS
  • Osteopathia striata - cranial sclerosis
  • Osteopathia striata-cranial sclerosis syndrome
  • Robinow-Unger syndrome
  • Voorhoeve disease
Who are the top Osteopathia Striata Cranial Sclerosis Local Doctors?
Experienced in Osteopathia Striata Cranial Sclerosis
Experienced in Osteopathia Striata Cranial Sclerosis

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Osteopathia Striata Cranial Sclerosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.

Experienced in Osteopathia Striata Cranial Sclerosis
Experienced in Osteopathia Striata Cranial Sclerosis

ETSU Physicians & Associates- Pediatrics

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

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Osteopathia Striata Cranial Sclerosis. 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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Blue Ridge Radiology, P.C.

3053 W State St, 
Bristol, TN 
Languages Spoken:
English
Offers Telehealth

Jonathan Mai is a Radiologist practicing medicine in Bristol, Tennessee. Dr. Mai is rated as an Experienced provider by MediFind in the treatment of Osteopathia Striata Cranial Sclerosis. His clinical expertise encompasses Pleurisy, Pleural Effusion, Lung Nodules, ALK-Positive Non-Small Cell Lung Cancer, and Bone Marrow Aspiration. Dr. Mai is board certified in American Board Of Radiology.

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