achondrogenesis type IA

An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.

Signs and symptoms

• Micromelia
• Pulmonary hypoplasia
• Bell-shaped thorax
• Protruding tongue
• Short nose
• Turricephaly
• Short thorax
• Flat face
• Absence of stomach bubble on fetal sonography
• Severe limb shortening

Also known as: achondrogenesis Houston-Harris type