National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Froster-Huch syndrome


Other Names:
Diaphragmatic defect limb deficiency skull defect
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2141

Definition
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.

Epidemiology
It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple.

Clinical description
The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), 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).

Antenatal diagnosis
Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.

Genetic counseling
Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of the scapula
Abnormality of the shoulder blade
0000782
Aplasia/Hypoplasia of the fibula
Absent/small calf bone
Absent/underdeveloped calf bone
[ more ] 		0006492
Aplasia/hypoplasia of the humerus
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm
[ more ] 		0006507
Aplasia/Hypoplasia of the radius 0006501
Aplasia/Hypoplasia of the ulna
Absence/underdevelopment of inner forearm bone
0006495
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Congenital diaphragmatic hernia 0000776
Decreased skull ossification
Decreased bone formation of skull
0004331
Finger syndactyly 0006101
Omphalocele 0001539
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Upper limb asymmetry
Unequal size of arms
0100560
5%-29% of people have these symptoms
Abnormal morphology of female internal genitalia 0000008
Percent of people who have these symptoms is not available through HPO
Abnormality of the diaphragm
Diaphragm issues
Diaphragmatic defect
[ more ] 		0000775
Amelia 0009827
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Autosomal recessive inheritance 0000007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Intestinal malrotation 0002566
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Syndactyly
Webbed fingers or toes
0001159
Testicular atrophy
Testicular degeneration
0000029
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Showing of 24 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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