We present audiologic results and follow-up of two siblings (normal mother, affected father, 3 of 4 affected children). Given the severity of the hearing loss and, in some cases, severe myopia, early audiologic intervention is highly desirable. [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.de]

The symptoms are usually present at birth and become more apparent in later childhood, consisting mainly of back pain and progressive joint stiffness. [whonamedit.com]

The documents contained in this web site are presented for information purposes only. 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]

• Short Stature

  Characteristic of PWS is low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and obesity. [pinterest.es]

  They had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and non-progressive sensorineural deafness. [ncbi.nlm.nih.gov]

  Skeletal malformations affect the bones of the arms, legs and spines eventually resulting in disproportionate short stature. Hearing loss is often severe. Intelligence is normal. [healthetreatment.com]

  stature syndrome Short stature, microcephaly, and endocrine dysfunction Short stature, optic nerve atrophy, and Pelger-Huet anomaly SHORT syndrome Short-rib thoracic dysplasia Shprintzen-Goldberg syndrome Silver-Russell syndrome Skeletal abnormalities [qlinics.com]

  As a result, affected individuals show unusually short arms and legs and short stature, called short-limbed dwarfism, apparent during early childhood (Psora/ Syphilis). [homeopathyworldcommunity.ning.com]

• Hearing Impairment

  […] loss see Nonsyndromic deafness#autosomal recessive Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome AxD see Alexander disease Ayerza syndrome see primary pulmonary hypertension B variant of the Hexosaminidase GM2 gangliosidosis [drpareshmajumder.com]

• Arthritis

  Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed. These will tend to worsen with age. [ibis-birthdefects.org]

  People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-frequency hearing loss is common in people with OSMED. [ghr.nlm.nih.gov]

  People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common. [en.wikipedia.org]

  COL2A1 gene (cause in 75% of families) Typically have type 1 vitreous anomaly and a high risk for retinal detachment, normal hearing or mild SNHL, and early-onset arthritis. [en.wikibooks.org]

  Medical History and Physical Examination for - Medical Test Osteoarthritis, Opioid Pain Relievers for - Medication Osteoarthritis, Osteotomy for Osteoarthritis, Physical Examination and Medical History for - Medical Test Osteoarthritis: Exercising With Arthritis [healthmedicinet.com]

• Platyspondyly

  The diagnostic radiological findings are the big epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. The occurrence of OSMED in two sisters suggests an autosomal-recessive transmission. [ncbi.nlm.nih.gov]

  […] with amelogenesis imperfecta Platyspondyly, severe, with peripheral anomalies Progressive pseudorheumatoid arthropathy Pseudoachondroplasia Pseudodiastrophic dysplasia Radiation therapy Rothmund-Thomson syndrome Schwartz-Jampel syndrome Sclerosing lethal [rrnursingschool.biz]

  […] methods Diagnosis is made on the basis of the clinical phenotype and typical radiographic findings: shortening of the long bones (humerus, radius, ulna, tibia, and fibula) with large epiphyses and metaphyseal flaring, coronal clefting and mild to moderate platyspondyly [rarediseases.info.nih.gov]

• Short Hands

  People with the condition are often shorter than average because the bones in their arms and legs are unusually short. Other skeletal signs include enlarged joints, short hands and fingers, and flat bones of the spine ( vertebrae ). [en.wikipedia.org]

  Affected individuals may also have joint contractures, abnormally large bones of the ankle (tarsal bones), and short hands with stubby fingers. [rarediseases.org]

• Arthralgia

  DISCUSSION The disproportionate dwarfism syndrome in the three affected sibs manifested itself at about 5 years of age by arthralgias and walking difficulties. Earlier detection might have been possible b y serial growth evaluation. [vdocuments.mx]

• Back Pain

  The symptoms are usually present at birth and become more apparent in later childhood, consisting mainly of back pain and progressive joint stiffness. [whonamedit.com]

• Hypertelorism

  Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate /bifid uvula, micrognathia, and hypertelorism. [rarediseases.info.nih.gov]

  Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/bifid uvula, micrognathia, and hypertelorism. [orpha.net]

  Weissenbacher-Zweymuller syndrome (WZS) is a genetic form of dwarfism in which affected individuals are born with small, underdeveloped jaws (micrognathia), cleft palate, short arms and legs (rhizomelia), "dumbbell" shaped arm and leg bones, protruding wide spaced eyes (hypertelorism [encyclopedia.com]

  Opitz BBBG syndrome (hypertelorism-hypospadias S. or G S.) 52. Opitz trigonocephaly S. (C syndrome) 53. Oro-facio-digital S. I (Papillon-Leage and Psaume S.) and II (Mohr S.) 54. Oromandibular-limb hypogenesis S. (incl. Hanhart S.) 55. [gamuts.isradiology.org]

  Individuals with Marshall syndrome manifest ocular hypertelorism, hypoplasia of the maxilla and nasal bones, flat nasal bridge and small upturned nasal tip ... [ibis-birthdefects.org]

• Pierre Robin Syndrome

  Weissenbacher-Zweymüller Syndrome was originally known as Pierre Robin Syndrome with fetal chondrodysplasia. [whonamedit.com]

  Synonyms Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous Pierre-Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome Type III Weissenbacher-Zweymuller Syndrome WZS Disorder Subdivisions [informationtherapy.in]

  Alternate names sometimes used for WZS include Pierre Robin syndrome with fetal chondrodysplasia and heterozygous otospondy lome gaepiphyseal dysplasia (OSMED). [encyclopedia.com]

  OSMED, Heterozygous It is also called as ‘Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant’, ‘Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous’, ‘Pierre-Robin Syndrome with Fetal Chondrodysplasia’, ‘Stickler Syndrome Type III’, ‘Weissenbacher-Zweymuller [homeopathyworldcommunity.ning.com]

  […] disease Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome Pigmentary cirrhosis see hemochromatosis PJS see Peutz-Jeghers syndrome PKAN see pantothenate kinase-associated neurodegeneration PKU see phenylketonuria [drpareshmajumder.com]

Management and treatment Treatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain. [rarediseases.info.nih.gov]

Osteoporosis: Taking Calcium and Vitamin D Osteosarcoma and Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®): Treatment - Patient Information [NCI] Osteosarcoma/Malignant Fibrous Histiocytoma of Bone Treatment (PDQ®): Treatment - Health Professional [healthmedicinet.com]

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]

Metab.. 2015 Nov 08 Neutral endopeptidase-resistant C-type natriuretic Peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related d... Wendt, D. [doximity.com]

Prognosis The prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain. Last updated: 11/27/2008 [rarediseases.info.nih.gov]

Prognosis The prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain. The documents contained in this web site are presented for information purposes only. [orpha.net]

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]

It could be either of autosomal dominant (OMIM 154780) or recessive (OMIM 215150) etiology. Two sibs with OSMED are presented. [ncbi.nlm.nih.gov]

Etiology OSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygous mutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen. [rarediseases.info.nih.gov]

Microtia has heterogeneous natures in both etiology and pathology. Strong evidence showed the involvement of the genetic and environmental factors, as well as their combined effects in the disease [2]. [journals.plos.org]

Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far. [rarediseases.info.nih.gov]

Summary Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far. [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]

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]

(December 2017) Epidemiology The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported. ^ Reference, Genetics Home. "OSMED". Genetics Home Reference. Retrieved 2018-03-22. [wikiwand.com]

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]

Pathophysiology Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production of type XI collagen. [wikiwand.com]

July 26, 2013: Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. [pinterest.es]

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]

Linkage Analysis To prevent false positive linkage signals due to strong linkage disequilibrium (LD) between adjacent SNP markers, we used a sliding-windows method in Plink [22] to prune our SNP set and tested as the following steps: a) calculated pairwise [journals.plos.org]