Ho–Kaufman–Mcalister syndrome

From WikiMD.com Medical Encyclopedia


Ho–Kaufman–Mcalister syndrome
Synonyms Blepharo-naso-facial syndrome
Pronounce N/A
Specialty N/A
Symptoms Blepharophimosis, ptosis, epicanthus inversus, telecanthus, nasal abnormalities, facial dysmorphism
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis Blepharophimosis syndrome, Kabuki syndrome, Noonan syndrome
Prevention N/A
Treatment Surgical correction of eyelid and nasal deformities
Medication N/A
Prognosis Generally good with treatment
Frequency Rare
Deaths Not typically life-threatening


Ho–Kaufman–Mcalister syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Ho, Kaufman, and Mcalister in 1987.

Symptoms and Signs[edit | edit source]

The most common symptoms of Ho–Kaufman–Mcalister syndrome include:

Other symptoms may include hypotonia (low muscle tone), seizures, and developmental delay.

Causes[edit | edit source]

Ho–Kaufman–Mcalister syndrome is a genetic disorder. It is thought to be caused by mutations in a gene, but the specific gene has not yet been identified.

Diagnosis[edit | edit source]

The diagnosis of Ho–Kaufman–Mcalister syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis.

Treatment[edit | edit source]

There is no cure for Ho–Kaufman–Mcalister syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy for hypotonia, special education for intellectual disability, and medication for seizures.

See also[edit | edit source]

References[edit | edit source]

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

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
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