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Learn About Craniofrontonasal Dysplasia

What is the definition of Craniofrontonasal Dysplasia?
Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis); and/or abnormal lateral curvature of the spine (scoliosis). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome). Females affected with this condition generally have more symptoms than affected males.
What are the alternative names for Craniofrontonasal Dysplasia?
  • Craniofrontonasal dysplasia
  • CFND
  • CFNS
  • Craniofrontonasal dysostosis
  • Craniofrontonasal syndrome
Who are the top Craniofrontonasal Dysplasia Local Doctors?
Advanced in Craniofrontonasal Dysplasia
Endocrinology
Advanced in Craniofrontonasal Dysplasia
Endocrinology

Regents Of The University Of California

505 Parnassus Ave, 
San Francisco, CA 
 (23.7 mi)
Languages Spoken:
English
Offers Telehealth

Edward Hsiao is an Endocrinologist in San Francisco, California. Dr. Hsiao and is rated as an Advanced provider by MediFind in the treatment of Craniofrontonasal Dysplasia. His top areas of expertise are Fibrous Dysplasia, Osteitis Fibrosa, Osteogenesis Imperfecta, Mccune-Albright Syndrome, and Hip Replacement.

Advanced in Craniofrontonasal Dysplasia
Medical Genetics | Pediatrics
Advanced in Craniofrontonasal Dysplasia
Medical Genetics | Pediatrics
513 Parnassus Ave, Room S747, Box 0442, 
San Francisco, CA 
 (23.7 mi)
Languages Spoken:
English

Ophir Klein is a Medical Genetics specialist and a Pediatrics provider in San Francisco, California. Dr. Klein and is rated as an Advanced provider by MediFind in the treatment of Craniofrontonasal Dysplasia. His top areas of expertise are Costello Syndrome, RASopathies, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

 
 
 
 
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Experienced in Craniofrontonasal Dysplasia
Endocrinology
Experienced in Craniofrontonasal Dysplasia
Endocrinology

Ucsf Medical Group Business Services

400 Parnassus Ave, 
San Francisco, CA 
 (23.7 mi)
Languages Spoken:
English
Offers Telehealth

Elizabeth Holt is an Endocrinologist in San Francisco, California. Dr. Holt and is rated as an Experienced provider by MediFind in the treatment of Craniofrontonasal Dysplasia. Her top areas of expertise are Thyroid Cancer, Medullary Thyroid Carcinoma, Follicular Thyroid Cancer, and Papillary Thyroid Cancer.

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