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Learn About Steinfeld Syndrome

What is the definition of Steinfeld Syndrome?
A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.
What are the alternative names for Steinfeld Syndrome?
  • Steinfeld syndrome
  • Holoprosencephaly radial heart renal anomalies
Who are the top Steinfeld Syndrome Local Doctors?
Advanced in Steinfeld Syndrome
Advanced in Steinfeld Syndrome
Nottingham, ENG, GB 

Gabriela Jones practices in Nottingham, United Kingdom. Ms. Jones is rated as an Advanced expert by MediFind in the treatment of Steinfeld Syndrome. Her top areas of expertise are Steinfeld Syndrome, Hennekam Syndrome, Lymphedema-Distichiasis Syndrome, and Lymphangiectasis.

Advanced in Steinfeld Syndrome
Medical Genetics | Pediatrics
Advanced in Steinfeld Syndrome
Medical Genetics | Pediatrics

Erlanger Health

900 E 3rd St, 
Chattanooga, TN 
Languages Spoken:
English
Offers Telehealth

Cathy Stevens is a Medical Genetics specialist and a Pediatrics provider in Chattanooga, Tennessee. Dr. Stevens is rated as an Advanced provider by MediFind in the treatment of Steinfeld Syndrome. Her top areas of expertise are Chromosome 6q Deletion, Townes-Brocks Syndrome, Microcephaly, and Miller-Dieker Syndrome.

 
 
 
 
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Experienced in Steinfeld Syndrome
Experienced in Steinfeld Syndrome
Guy's And St Thomas' NHS Trust, 
London, ENG, GB 

Lisa Robertson practices in London, United Kingdom. Ms. Robertson is rated as an Experienced expert by MediFind in the treatment of Steinfeld Syndrome. Her top areas of expertise are Steinfeld Syndrome, Micrognathia, Camptodactyly Syndrome Guadalajara Type 2, and Camptodactyly Syndrome Guadalajara Type 1.

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Who are the sources who wrote this article ?

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