Lyngstadaas Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

Lyngstadaas syndrome, Steroid dehydrogenase deficiency and dental anomaly syndrome, Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)

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Introduction

An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.

100 Clinical Results associated with Lyngstadaas Syndrome

100 Translational Medicine associated with Lyngstadaas Syndrome

0 Patents (Medical) associated with Lyngstadaas Syndrome

Literatures (Medical) associated with Lyngstadaas Syndrome

01 Apr 2019·American Journal of Medical Genetics Part AQ3 · BIOLOGY

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon‐like autosomal recessive syndrome

Q3 · BIOLOGY

Article

Author: Korakavi, Nisha ; Seaver, Laurie H. ; Prokop, Jeremy W.

In 2011, biallelic loss‐of‐function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon‐like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with IL11RA variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Laboratory testing detected biallelic IL11RA variants, c.916_924dup (p.Thr306_Ser308dup) and c.781C > T (p.Arg261Cys), both of which have now been reported in other families. Protein modeling and conservation analysis show that these two mutation sites cluster together near a WSXWS motif that likely plays a significant role in regulating IL11RA protein function. Population analysis from gnomAD shows that Non‐Finnish Europeans (similar to ethnicity of this family), have an allele frequency for p.Thr306_Ser308dup of 0.014% and p.Arg261Cys of 0.008%. We found other ethnicities have functional IL11RA missense variants at higher frequencies. With this report, we provide a summary of the clinical findings including details of middle ear anomalies associated with conductive hearing loss. We also provide data supporting the populations at risk for this condition to increase recognition and diagnosis of this rare autosomal recessive craniosynostosis syndrome.

01 Apr 2010·Journal of DentistryQ2 · MEDICINE

Systemic disorders and their influence on the development of dental hard tissues: A literature review

Q2 · MEDICINE

Review

Author: Michael Atar ; Egbert J. Körperich

OBJECTIVESThis report highlights the influence of a number of disorders with systemic physiological effects that impact on the development of dental hard tissues. It focuses in particular, on the pathological effects of systemic conditions with less well recognised, but no less important, impacts on dental development. Such conditions, include cystic fibrosis, HIV/AIDS, leukaemia, Alstrom syndrome, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa. These, along with developmental and environmental causes of enamel and dentine defects, are discussed and the possible aetiology of such effects are proposed. Furthermore, the dental management and long-term dental care of these patients is outlined.SOURCESMEDLINE/PubMed.CONCLUSIONSEnamel and dentine defects can present with a wide spectrum of clinical features and may be caused by a variety of factors occurring throughout tooth development from before birth to adulthood. These may include host traits, genetic factors, immunological responses to cariogenic bacteria, saliva composition, environmental and behavioural factors and systemic diseases. These diseases and their spectrum of clinical manifestations on the organs affected (including the dentition) require an increased knowledge by dental practitioners of the disease processes, aetiology, relevant treatment strategies and prognosis, and must encompass more than simply the management of the dental requirements of the patient. It is important that the impact of the disease and its treatment, particularly in respect of immunosuppression where dental interventions may become life-threatening, is also taken into consideration.

01 Apr 2003·Journal of Pediatric Gastroenterology and NutritionQ4 · MEDICINE

Regression of Diaphyseal Multiloculated Bone Cyst in Familial Steroid Dehydrogenase Deficiency

Q4 · MEDICINE

Article

Author: Hugosson, Claes ; Khorsheed, Sahar S ; Nazer, Hisham

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Lyngstadaas Syndrome

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