[…] dysplasia Disease definition Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present [orpha.net]

Eight patients are presented who have a generalized bone dysplasia that resembles severe cleidocranial dysplasia but lacks the cranial and clavicular features of that well-defined condition. [ncbi.nlm.nih.gov]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Adult presentation of right lung agenesis and left pulmonary artery sling. Acta Radiol 2007;23:1-4. Thiessen R, Seely J, Matzinger F, Agarwal PP, Burns K, Dennie C. [scirp.org]

• Weight Loss

  The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular ... [kegg.jp]

• Platyspondyly

  C,D: X-rays showing platyspondyly and deformities of the ribs ( C ), as well as metaphyseal deformations such as bone rarefaction, aerated bone containing trabeculae, and cortical irregularity ( D ). [rb.org.br]

  […] mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly [csbg.cnb.csic.es]

  […] dysplasia SED (Wolcott-Rallison type) SEMD (Matrilin type) SEMD (short limb–abnormal calcification type) SED tarda X-linked Spondylodysplastic Ehlers-Danlos syndrome SPONASTRIME (spondylar and nasal changes, with striations of the metaphyses) dysplasia Platyspondyly [emedicine.medscape.com]

  Individuals with homozygous OSMED also have flattening of the central regions of bones in the spinal column (platyspondyly) and progressive fusion of the eight small bones of the wrists (carpal bones). [rarediseases.org]

• Lordosis

  Other physical characteristics may include outward "flaring" of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body, called coxa vara. [homeopathyworldcommunity.ning.com]

  As affected individuals age, they may develop progressive front-to-back curvature of the spine (lordosis) and large, painful joints with reduced mobility. [rarediseases.org]

• Coxa Valga

  Additional features include delayed carpal bone ossification, pseudoepiphyses in the hands and feet, hypoplastic iliac wings, coxa valga, unossified pubic bones, and hypoplasia of the facial bones. [rrnursingschool.biz]

• Eruptions

  GENERALS - EXOSTOSIS - eruptions; after suppressed sulph. GENERALS - EXOSTOSIS - injuries; after calc-f. GENERALS - EXOSTOSIS – painful aur. daph. kali-i. merc. syph. GENERALS - EXOSTOSIS – syphilitic fl-ac. hep. merc. GENERALS – EXOSTOSIS am-c. [homeopathyworldcommunity.ning.com]

  […] related disorders These include the following conditions: Cleidocranial dysplasia [23] CDAGS (craniosynostosis and clavicular hypoplasia; delayed closure of the fontanel, cranial defects, and deafness; anal anomalies; genitourinary malformations; skin eruption [emedicine.medscape.com]

  Nestor-Guillermo progeria syndrome Digestive system diseases Mouth and dental diseases Hereditary dentine disorders Amelogenesis imperfecta Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) Tooth agenesis Primary failure of tooth eruption [csirnotes.com]

• Cutis Laxa

  laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Macrocephaly, alopecia, cutis laxa, and scoliosis Revesz syndrome Nephropathy with pretibial epidermolysis bullosa and deafness Dowling-Degos disease Pilomatricoma Focal dermal hypoplasia [csirnotes.com]

  laxa (types 2A and 2B) Singleton-Merten dysplasia Abnormal mineralization group This includes the following conditions: Hypophosphatasias Hypophosphatemic rickets Neonatal hyperparathyroidism Familial hypocalciuric hypercalcemia with transient neonatal [emedicine.medscape.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]

However, a few patients did not reach this favorable outcome despite early and adequate treatment. [jci.org]

Standard Therapies Treatment The treatment of homozygous OSMED is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

Prognosis The chance for an individual affected by WZS to have normal physical, motor, mental, and school development by age six or seven is very good. [encyclopedia.com]

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

Relevant External Links for NKX3-2 Human Genome Epidemiology (HuGE) Navigator NKX3-2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NKX3-2 No data available for Genatlas for NKX3-2 Gene Sequence and chromosomal assignment of human BAPX1 [genecards.org]

Epidemiology The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported. [ipfs.io]

You can help by adding to it. ( December 2017 ) Epidemiology [ edit ] The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported. References [ edit ] ^ Reference, Genetics Home. "OSMED". [en.wikipedia.org]

[…] short stature - hearing loss Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Investigator: Geert Mortier General goals for this research line are: - to identify genes that are important in the regulation of linear growth, endochondral - to explore the phenotypic consequences of mutations in these genes - to gain more insights in the pathophysiology [uantwerpen.be]

Pathophysiology Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance. Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. [ipfs.io]

Pathophysiology [ edit ] Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production of type XI collagen. [en.wikipedia.org]

Early diagnosis of SMMD by recognition of the radiographic pattern might prevent of the neurologic complications via prophylactic cervical spine stabilization. Copyright © 2012 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

Elderly males are more prone to this mutation during spermatogenesis while females have some regulatory mechanism that prevents the mutation during oogenesis. [homeopathyworldcommunity.ning.com]