diaphragmatic defect-limb deficiency-skull defect syndrome
Findings
No curated finding names diaphragmatic defect-limb deficiency-skull defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011007), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormal scapula morphologyHPOHP:0000782
- Very frequent (80% to 99% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: diaphragmatic defect-limb deficiency-skull defect syndrome
- Also called
- froster-Huch syndrome