spondyloepiphyseal dysplasia tarda with characteristic facies

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.

Signs and symptoms

• Microcephaly
• Wide nasal bridge
• Global developmental delay
• Flattened knee epiphyses
• Broad nasal tip
• Thick lower lip vermilion
• Short philtrum
• Broad philtrum
• Thick upper lip vermilion
• Spondyloepiphyseal dysplasia