fibrochondrogenesis 1

A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_mater

A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.

Signs and symptoms

• Fibular hypoplasia
• Hypoplastic scapulae
• Short foot
• Megalocornea
• Thoracic hypoplasia
• Narrow mouth
• Short nose
• Posterior vertebral hypoplasia
• Hypoplastic fingernail
• Hypoplastic toenails