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Froster-Huch Syndrome

Presentation

If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. [dovemed.com]

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 [ebi.ac.uk]

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), [rarehematologynews.com]

Psychiatrical

  • Suggestibility

    Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

    Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet. 1997;68(1):82–5. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72(6):857–63. [bmcmusculoskeletdisord.biomedcentral.com]

Workup

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet. 1997;68(1):82–5. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72(6):857–63. [bmcmusculoskeletdisord.biomedcentral.com]

Treatment

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

They fly individuals to hospitals and treatment centers in 26 states within a 600 mile radius of their St. Louis, MO headquarters. [rarediseases.info.nih.gov]

The complications of Froster-Huch Syndrome may include: Profound malformations in the developing fetus This may severely affect breathing and feeding after birth Complications may occur with or without treatment, and in some cases, due to treatment also [dovemed.com]

A better understanding of how this therapeutic approach works, and more particularly how killer lymphocytes access tumors during immunotherapy, could improve the efficacy of the treatments. [institutcochin.fr]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis

What is the Prognosis of Froster-Huch Syndrome? (Outcomes/Resolutions) The prognosis of Froster-Huch Syndrome is poor, since an affected fetus may show severe abnormalities. [dovemed.com]

Etiology

(Etiology) Froster-Huch Syndrome may be caused by gene mutation(s) that is inherited in an autosomal recessive manner, or due to gamete or germline mosaicism in one parent The exact causative gene mutation for Froster-Huch Syndrome is yet to be identified [dovemed.com]

Epidemiology

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

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

Prevention

How can Froster-Huch Syndrome be Prevented? Currently, Froster-Huch Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

IMALIVE Provides help with suicide intervention, prevention, awareness, and education and hope through online crisis chat, educational on-campus and virtual college events, and awareness campaigns. [rarediseases.info.nih.gov]

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