Arthritis is usually a polyarticular synovitis and tenosynovitis and is commonly present (95 %). Camptodactyly with synovial cysts are also be present. [entokey.com]

Cataracts may be present. Nystagmus may be present secondary to impaired vision. [ncbi.nlm.nih.gov]

Telephone: 851-5313 e-mail: [email protected] SUMMARY A congenital malformation is an anatomical or structural abnormality present at birth. [docplayer.net]

These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. [mendelian.co]

• Keratosis

  Numerous acquired melanocytic nevi and keratosis pilaris (follicular hyperkeratosis of extremities and/or face) is seen in majority of patients with CFC. [entokey.com]

  […] detected in BMPR1A, PTEN, SMAD4 genes Kabuki 1, 2; CHARGE; Townes-Brocks, syndromes NGS of 5 gene panel: CHD7, KDM6A, KMT2D, MACROD2, SALL1 Kallmann Syndrome type 2 Sanger sequencing of the FGFR1 gene Karak syndrome Sanger Sequencing of the PLA2G6 gene Keratosis [pentacorelab.hu]

• Abnormal Renal Function

  Abnormal renal function and elevated liver function tests can be present in 10 % of patients. Undescended testes and absent sexual maturation. No individuals with CS type I or type II have been known to reproduce [ 74 ]. [entokey.com]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Treatment varies on a case-by-case basis, and is typically focused on treating the underlying issue that is causing the defect. Symptoms are also treated, for example ataxia can be managed through physical therapy. [diseaseinfosearch.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment depends on the manifestations of disease. [entokey.com]

Treatment for hearing loss and sleep disorders is dependent on the specific defect and similar to the general population. [ncbi.nlm.nih.gov]

PMID: 21419309 Prognosis Pace R, Giuliani V, Pagavino G J Endod 2011 Apr;37(4):558-61. doi: 10.1016/j.joen.2010.12.015. [ncbi.nlm.nih.gov]

Predictors of poor prognosis include cataracts noted at birth or within the first 3 years of life, microphthalmia or iris hypoplasia [ 73 ]. [entokey.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan [ncbi.nlm.nih.gov]

The etiology of corneal pathology may be multifactorial. Di Iorio reported 23 patients with EEC of which 61 % had limbal stem cell deficiency that likely led to progressive keratopathy and dense vascularized corneal pannus [ 38 ]. [entokey.com]

Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical cardiac disease - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology Albinism can affect people of all ethnic backgrounds. Approximately one in 17,000 people have albinism [Table 8.1 ] [ 2 ]. [entokey.com]

Prevention of Secondary Complications No special preventative care is recommended. Follow-up care is personalized based on the physical impairments found in the individual. [ncbi.nlm.nih.gov]

Local excision of trichilemmomas are often adequate with careful scrutiny of surgical margins to prevent benign recurrence [ 13 ]. [entokey.com]

Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two [wikivisually.com]