The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Thus, true dwarfism may not be present. Atlanto-axial instability may be present, and patients may present with neurologic deficits or symptoms. Scoliosis or thoracic kyphosis with exaggerated lumbar lordosis may develop. [jisppd.com]

Root stumps were present in relation to 46 [Figure 2] a and b. [jiaomr.in]

Short limbed dwarfism (Mesomelic) Extra fingers Polydactyl Congenital heart defects 60% Teeth abnormalities widely spaced, delayed/missing and/or present at birth (natal teeth) Nail problems fingernail dysplasia Short ribs Cleft palate Malformation of [littlepeopleuk.org]

• Proportionate Short Stature

  There are 2 main types of restricted growth: proportionate short stature (PSS) – a general lack of growth in the body, arms and legs disproportionate short stature (DSS) – where the arms and legs are particularly short As well as being short, some people [nhs.uk]

  Most individuals with disproportionate short stature have skeletal dysplasias, and those with proportionate short stature have endocrine, nutritional, or other genetic or teratogenic disorders, although there are exceptions to this generalization. [nature.com]

• Anemia

  Am J Med Genet 1996;61:63-64 Quarrell OWJ, Maltby EL, Harrison CJ: Baller-Gerold syndrome and Fanconi anemia. [karger.com]

  OMIM:608567 Sick Sinus Syndrome 1; SSS1 OMIM:163800 Sick Sinus Syndrome 2; SSS2 OMIM:614090 Sick Sinus Syndrome 3, Susceptibility To; SSS3 OMIM:300263 Siderius X-Linked Mental Retardation Syndrome; MRXSSD OMIM:616084 Sideroblastic Anemia with B-Cell [informatics.jax.org]

• Osteophyte

  Discovertebral osteophytes and hypertrophic degenerative facet joint changes may contribute significantly to central canal and nerve root canal stenosis, superimposed on a developmentally small canal. [radiologykey.com]

• Blue Sclera

  Diseases related with Short stature and Blue sclerae In the following list you will find some of the most common rare diseases related to Short stature and Blue sclerae that can help you solving undiagnosed cases. [mendelian.co]

  sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone fragility Often intrauterine or neonatal death III (Rare) Congenita (tarda) Autosomal [flinders.edu.au]

  It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. [orthopaedicweblinks.com]

  Their sclerae are blue that becomes gray to pale blue in adulthood. Arcus senilis, not related to lipid abnormalities, may occur in some patients. [nature.com]

• Average Intelligence

  […] and average intelligence (29%). [entokey.com]

Treatment Diagnosis and treatment will depend on the type of dysplasia. Most treatments focus on reducing the symptoms, and some are specific to the type of dysplasia. Some common treatments are listed below. [medicalnewstoday.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. [webmd.com]

Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1. [flinders.edu.au]

*Author: Orphanet (November 2008) Prognosis - CODAS syndrome Not supplied. Treatment - CODAS syndrome Not supplied. Resources - CODAS syndrome Not supplied. [checkorphan.org]

Prognosis is variable and depends on the location and size of the lesion. Due to the risk of recurrence, patients with this unusual dysplasia should be monitored on a regular basis. 42. [slideshare.net]

Course and prognosis In severe cases, short stature, prominent knees, cleft palate and clubfeet are noted at birth. Chronic otitis media, hearing loss, myopia and retinal detachment are major complications. [raredisorders.imedpub.com]

Two distinct subtypes historically have been described based on the degree of abnormality of the developing hips and this classification may assist in prognosis and treatment planning. [radiologykey.com]

ETIOLOGY: -Beighton and Kozlowski in Cape Town South Africa (1980) first described the 7 patients with a distinctive form of SEMD with joint laxity and severe scoliosis. [gait.aidi.udel.edu]

Classifications: There are typically four classes (or types) of PFFD, ranging from class A to class D, as detailed by Aitken Pathology: The etiology of this disorder is uncertain. [slideshare.net]

The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI. [nature.com]

[…] upper cervical complex or craniovertebral junction at increased risk. 221 The relationship between Down syndrome and congenital laxity of the transverse portion of the cruciate ligament of C1 is well known, and is generally considered to be the primary etiology [radiologykey.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Epidemiology The precise frequency of pycnodysostosis has not been determined. [checkrare.com]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543 : 1–15. 58. Madigan WP, Wertz D, Cockerham GC, Thach AB. [nature.com]

Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed. [books.google.de]

Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]

Wolcott-Rallison Syndrome 1 Department of Pediatric and Preventive Dentistry, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India 2 Department of Pedodontics and Preventive Dentistry, Jodhpur Dental College General Hospital, Boranara, Jodhpur [jisppd.com]

[…] hearing loss due to repeated ear infections Orthodontic treatment to relieve crowding of teeth caused by a small jaw Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems [webmd.com]

Prevention - CODAS syndrome Not supplied. [checkorphan.org]