Bixler Christian Gorlin syndrome

Other Names: HMC syndrome; Hypertelorism microtia facial clefting syndrome

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.

Epidemiology

Nine cases have been reported in the literature in seven families.

Cause

Autosomal recessive inheritance, a 25% chance

The reported cases support autosomal recessive inheritance.

Signs and symptoms

Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Atresia of the external auditory canal(Absent ear canal)
• Hypertelorism(Wide-set eyes)
• Median cleft lip and palate(Central cleft lip and palate)
• Microcephaly(Abnormally small skull)
• Microtia(Small ears)

30%-79% of people have these symptoms

• Conductive hearing impairment(Conductive deafness)
• Crossed fused renal ectopia
• Global developmental delay
• Horseshoe kidney(Horseshoe kidneys)
• Intellectual disability(Mental deficiency)
• Severe short stature(Dwarfism)
• Specific learning disability
• Thenar muscle atrophy

5%-29% of people have these symptoms

• Bifid nasal tip(Cleft nasal tip)
• Bifid nose(Indentation or clefting of the nose)

Diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring.

NIH genetic and rare disease info

• NIH info on Bixler Christian Gorlin syndrome

Bixler Christian Gorlin syndrome is a rare disease.