Symptoma

Patella Aplasia - Hypoplasia

Absent or Hypoplastic Patella

Posterior iliac horns are pathognomonic for NPS, but reported to be present in only 70% of cases. [jmg.bmj.com]

ORPHA:86789 Synonym(s): PTLAH Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal ICD-10: Q74.1 OMIM: 168860 UMLS: C1868577 MeSH: C535568 GARD: 8709 MedDRA: - The documents contained in this web site are presented for information [orpha.net]

Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance [books.google.com]

  • Localized Pain

    Occasionally, local pain has been reported (Green 1975). Multipartite patella originates from multiple unfused bony foci. A finding similar, and probably related, to patella bipartita is dorsal defect of the patella. [rrnursingschool.biz]

  • Normal Stature

    In one of these reports, the index patient, who had a homozygous R279 W mutation in the DTDST gene product, was born to healthy parents who were heterozygous for that mutation and had normal stature, clubfoot, and double-layered patellas (Superti-Furga [rrnursingschool.biz]

  • Hyperhidrosis

    الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏ [books.google.com]

  • Keratosis

    الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏ [books.google.com]

  • Broad Nasal Bridge

    One of the two sporadic cases described by Kozlowski and Nelson 6 had synophrys, epicanthic folds, a broad nasal bridge, apparently low set, posteriorly angulated ears, anteverted nares, long philtrum, high palate, prominent lower lip, and micrognathia [jmg.bmj.com]

  • Abnormal Gait

    Psychomotor development has been normal except for an abnormal gait and weakness of the lower extremities. He had surgery for cryptorchidism at the age of 7½ years. [jmg.bmj.com]

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]

Seite 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‎ [books.google.de]

الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‏ [books.google.com]

Treatment and Prognosis There isn’t treatment for underlying disorder. Management must be done in order to prevent and treat the renal complications. [rxpgonline.com]

Prognosis of Nail Patella Syndrome 30-55% of patients with nail-patella syndrome develop a renal disease and end-stage renal disease may develop in about 5%. Prognosis after renal transplantation is good. [boneandspine.com]

[…] cases scoliosis can be severe and require surgery (also see tethered cord syndrome ) In some cases kidney transplantation is required Other treatment Physical therapy Braces, splints for skeletal deformities Social support [4,5] Life expectancy The prognosis [syndromespedia.com]

The etiology and treatment of congenital dislocation of the knee Katz, M.P.; Grogono, B.J.; Soper, K.C. [deepdyve.com]

Incidence, Epidemiology, and Genetic The incidence of NPS is about 2-3/100.000 births and it haven’t any ethnic prevalence. Inheritance occurs as an autossomal dominant trait linked to ABO blood group locus. [rxpgonline.com]

Epidemiology Frequency United States Nail-patella syndrome has been recognized for more than 100 years. It has an estimated prevalence of 1 per 50,000 live births. International Nail-patella syndrome has been described in multiple populations. [emedicine.medscape.com]

More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. [books.google.com]

Pathophysiology The complete pathophysiology underlying NPS is not known. Probably, the musculoskeletal abnormalities are involved with synthesis, assembly, or degradation collagen disorder. [rxpgonline.com]

Other Names for Nail Patella Syndrome Fong disease Hereditary onycho-osteodysplasia Hereditary osteo-onychodysplasia Osterreicher syndrome Pelvic horn syndrome Turner-Kieser syndrome Pathophysiology and Genetics The LMX1B gene is a transcription factor [boneandspine.com]

Heterozygous loss-of-function mutations in LMX1B cause nail-patella syndrome. [5, 6] Pathophysiology Although the joint anomalies in nail-patella syndrome may limit range of motion (ROM), the associated glaucoma and nephropathy may be the most serious [emedicine.medscape.com]

Seite 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‎ [books.google.de]

الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‏ [books.google.com]

Management must be done in order to prevent and treat the renal complications. A multidisciplinary approach must be done, including Pediatrics, Nephrology, Orthopedics, Rheumatology, and Psychology. [rxpgonline.com]

First, it may help prevent osteoarthritis of the lateral compartment. [healio.com]

Early detection of elevated intraocular pressure and appropriate treatment may prevent the nerve or retinal damage. Lester sign is a hyperpigmented, irregular ring in the iris may be noted. [boneandspine.com]