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

In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. [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]

• Feeding Difficulties

  difficulties-developmental delay-microcephaly syndrome Familial partial lipodystrophy associated with PPARG mutations Giant cell glioblastoma Gliosarcoma Synonym(s): - CHARGE association - Coloboma - heart defects - atresia choanae - retardation of growth [csbg.cnb.csic.es]

  Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Microphthalmia and Feeding difficulties in infancy, related diseases and genetic alterations [mendelian.co]

• Developmental Disorder

  disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. [mendelian.co]

• Malaise

  Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. [docplayer.net]

• Short Finger

  Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). [mendelian.co]

• Vomiting

  Foot polydactyly Hemiatrophy Scarring alopecia of scalp Epiphyseal stippling Patchy alopecia Elevated 8-dehydrocholesterol Vertebral wedging Short nose Hypernatremic dehydration Skin rash Anal atresia Hypogonadism Mandibular prognathia Osteoporosis Vomiting [mendelian.co]

  […] throughout life If the rash is atypical in appearance or distribution, a diagnosis of probably RTS can be made with presence of two other following features: sparse scalp hair, eyelashes or brows, short stature, gastrointestinal disturbances (chronic vomiting [entokey.com]

• Brachydactyly

  […] eyelid, arched eyebrows with the lateral one-third sparse, depressed nasal tip with short columella, and prominent or cupped ears); congenital anomalies (congenital heart defects, renal anomalies); skeletal anomalies (persistent fetal fingertip pads; brachydactyly [oxfordmedicine.com]

  Top matches: High match CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine [mendelian.co]

  […] cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Preauricular / branchial tags / appendages - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Scoliosis - Short hand / brachydactyly [csbg.cnb.csic.es]

  Brachydactyly with Joint dysplasia (Liebenberg syndrome) Sanger Sequencing of the PITX1 gene Brachydactyly, type A1 Sanger sequencing of the IHH gene Brachydactyly, TYPE B1 Sanger sequencing of the ROR2 gene Brachydactyly, types A1, A2, B1, B2, C, D, [pentacorelab.hu]

• Dysmetria

  Phimosis Overfolded helix Delayed speech and language development Nevus Talipes equinovarus Sensory neuropathy Primary amenorrhea Intention tremor Peripheral demyelination Amenorrhea Paresthesia Chorea Decreased testicular size Small hand Polyneuropathy Dysmetria [mendelian.co]

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]