An overview on“hereditary onycho-osteodysplasia (Hood Syndrome)/Nail patella syndrome”

Bhor, Rohit J.; Damdhar, Harshala; Kokate, Geeta; Salve, Maduri; Andhale, Swati

doi:10.5958/0974-360x.2016.00351.6

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“…The factor underlying the syndrome is the mutation of the LMX1B gene (MIM 602575) on chromosome 9q34 (Ghoumid et al, ; Sweeney, Fryer, Mountford, Green, & McIntosh, ). Although its clinical manifestations vary in frequency and severity, NPS is generally characterized by malformation of the nails and elbows, insufficient development or the absence of kneecaps, and exostosis of the iliac wings (iliac horns due to abnormal bone production; Bhor, Damdhar, Kokate, Salve, & Andhale, ). Moreover, ocular anomalies (i.e., glaucoma) and renal damage (i.e., nephropathy) are observed frequently, in approximately one in three cases (Bongers et al, ; Lemley, ; Lichter et al, ).…”

Section: Introductionmentioning

confidence: 99%

Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives

Geerts‐Crabbé

Antoine

Brugallé

et al. 2019

Journal of Genetic Counseling

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Développement embryonnaire et du Métabolisme: du phénotype au génotype et à la Fonction, Abstract Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi-structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis. Results highlighted attempts to look like a person without disabilities by hiding malformations and not telling the truth about symptoms' genetic origin because of patients' poor self-esteem, negative self-cognition, and social isolation experienced from childhood to adulthood. Difficulties of adaptation to physical limits and painwere also identified. The majority of participants who were not diagnosed at birth tended to consider physical symptoms as "birth malformations" without imagining other potential implications until receiving a diagnosis. Despite the diagnosis, the majority continued to minimize the potential complications by considering NPS as a "physical difference" and not adhering to medical surveillance.

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