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Disease Profile

Froster-Huch syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Diaphragmatic defect limb deficiency skull defect

Categories

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases

Summary

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.

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal scapula morphology
Abnormality of the shoulder blade
0000782
Abnormality of femur morphology
Abnormality of the thighbone
0002823
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

Learn more

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.