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diaphragmatic defect-limb deficiency-skull defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diaphragmatic defect-limb deficiency-skull defect syndrome

MONDO:0011007

Also known as:froster-Huch syndromediaphragmatic defect limb deficiency skull defectdiaphragmatic defects, limb deficiencies, and ossification defects of skull

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Amelia, Toe syndactyly, Pulmonary hypoplasia, and Anteverted nares and 10 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Toe syndactyly, Clinodactyly of the 5th finger
Lungs and breathing

Diagnosis

Biomarker and diagnostic research for diaphragmatic defect-limb deficiency-skull defect syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for diaphragmatic defect-limb deficiency-skull defect syndrome.

106 publications have been identified in PubMed for diaphragmatic defect-limb deficiency-skull defect syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	71	67%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601163

Orphanet

European rare disease database

Orphanet:2141

GARD

Genetic and Rare Diseases Info Center

GARD:2397

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

diaphragmatic defect-limb deficiency-skull defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

diaphragmatic defect-limb deficiency-skull defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications