Jeune syndrome, or at least some forms of it, is an autosomal recessive condition. Consanguinity is often present. A locus (15q13) containing homozygous mutations in ATD has been proposed as one candidate site. There is considerable genetic heterogeneity with at least 5 types described, all with mutations in different genes.
Another disorder with some similar features causing respiratory distress is Majewski syndrome (263520).