syndromic disease diaphragmatic defect-limb deficiency-skull defect syndrome https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome https://www.malacards.org/card/diaphragmatic_defect_limb_deficiency_skull_defect_syndrome https://www.malacards.org/card/diaphragmatic_defects_limb_deficiencies_and_ossification_defects_of_skull SCTID:721095007 MEDGEN:371377 MONDO:0011007 UMLS:C1832668 This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. OMIM:601163 GARD:0002397 froster-Huch syndrome MESH:C563380 Orphanet:2141 diaphragmatic defect limb deficiency skull defect multiple congenital anomalies/dysmorphic syndrome without intellectual disability