autosomal recessive Robinow syndrome 2

A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has

A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.

Signs and symptoms

• Long philtrum
• Anteverted nares
• Brachydactyly
• Broad hallux
• Hypertelorism
• Clinodactyly
• Gingival overgrowth
• Mesomelia
• Broad thumb
• High forehead