short-rib thoracic dysplasia 19 with or without polydactyly

An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.

Signs and symptoms

• Generalized hypotonia
• Relative macrocephaly
• Lateral clavicle hook
• Dolichocephaly
• Prominent occiput
• Micromelia
• Long philtrum
• Pulmonary hypoplasia
• Thoracic hypoplasia
• Brachydactyly