Ho–Kaufman–Mcalister syndrome

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

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

• Intellectual disability
• Microcephaly (small head size)
• Short stature
• Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin

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

Causes

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

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

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

• List of genetic disorders
• Intellectual disability
• Microcephaly
• Short stature

References

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