Culler Jones Syndrome
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Culler Jones Syndrome Overview

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Learn About Culler Jones Syndrome

What is the definition of Culler Jones Syndrome?

Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism, presence of extra fingers (polydactyly) and unusual facial features. Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism). Facial features include eyes that appear very close together (hypotelorism), cleft palate and cleft lip and a flat nose. The extra digits are usually located on the outside of the little fingers (post-axial polydactyly). Brain imaging may show a small anterior pituitary gland. Culler-Jones syndrome is caused by changes in the GLI2 gene. Inheritance is autosomal dominant. Genetic changes in the GLI2 gene can also cause a different condition known as holoprosencephaly-9 (HPE9) which is much more severe. That condition is characterized by a single-lobed brain structure and severe skull and facial defects.

Who are the top Culler Jones Syndrome Local Doctors?

Advanced in Culler Jones Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in Culler Jones Syndrome

Dr. Alvaro H. Russi

Pediatrics

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 Culler Jones 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.

Experienced in Culler Jones Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in Culler Jones Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Referral may be required

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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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 Culler Jones 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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Experienced in Culler Jones Syndrome

Dr. Sunil Pauwaa

Advanced Heart Failure and Transplant Cardiology

Experienced in Culler Jones Syndrome

Dr. Sunil Pauwaa

Advanced Heart Failure and Transplant Cardiology

Referral may be required

Advocate Heart Institute

10837 S Cicero Ave, Ste 200,

Oak Lawn, IL

708-636-7575

Languages Spoken:

English

See accepted insurances

Offers Telehealth

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Culler Jones Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Pulmonary Edema, and Heart Transplant. Dr. Pauwaa is board certified in American Board Of Internal Medicine, Advanced Heart Failure And Transplant Cardiology.