ABCD syndrome

From WikiMD's medical encyclopedia


ABCD syndrome
Synonyms Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, Deafness
Pronounce N/A
Specialty N/A
Symptoms Albinism, deafness, intestinal abnormalities, black lock of hair
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation in the EDNRB gene
Risks Autosomal recessive inheritance
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Waardenburg syndrome, Hirschsprung's disease
Prevention N/A
Treatment Symptomatic management, hearing aids, surgery for intestinal issues
Medication N/A
Prognosis Variable, depends on severity of symptoms
Frequency Extremely rare
Deaths N/A


ABCD syndrome is a rare, genetically inherited condition characterized by Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness. It was first described in 1981 and is also known as Waardenburg syndrome type IV.

Albinism

Albinism is a group of inherited disorders characterized by little or no production of the pigment melanin, which is responsible for the color of the skin, hair, and eyes. In ABCD syndrome, albinism primarily affects the color of the person's skin and hair.

Black lock

The term "Black lock" refers to a lock of hair that is darker than the rest, typically located at the temporal region. This is a distinctive feature of ABCD syndrome and is often present from birth.

Cell migration disorder of the neurocytes of the gut

In ABCD syndrome, there is a cell migration disorder of the neurocytes of the gut. This results in a condition known as Hirschsprung's disease, which is characterized by the absence of nerve cells in the muscles of the colon, causing problems with passing stool.

Deafness

Deafness or hearing loss is another key feature of ABCD syndrome. This is typically sensorineural in nature, meaning it is caused by abnormalities in the inner ear or the auditory nerves.

Genetics

ABCD syndrome is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of ABCD syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment of ABCD syndrome is symptomatic and supportive. Management may include treatment for Hirschsprung's disease, hearing aids for deafness, and protective clothing and sunscreen for albinism.

See also




NIH genetic and rare disease info

ABCD syndrome is a rare disease.

WHO Rod.svg
This article is a medical stub. You can help WikiMD by expanding it!
PubMed
Wikipedia
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Transform your life with W8MD's budget GLP-1 injections from $125.

W8mdlogo.png
W8MD weight loss doctors team

W8MD offers a medical weight loss program to lose weight in Philadelphia. Our physician-supervised medical weight loss provides:

NYC weight loss doctor appointments

Start your NYC weight loss journey today at our NYC medical weight loss and Philadelphia medical weight loss clinics.

Linkedin_Shiny_Icon Facebook_Shiny_Icon YouTube_icon_(2011-2013) Google plus


Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD