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]

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]

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

Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. [ghr.nlm.nih.gov]

• 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]

  Skeletal abnormalities associated with homozygous OSMED eventually result in short stature with disproportionately short limbs. [rarediseases.org]

• 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]

• Progressive Sensorineural Deafness

  Parents were heterozygotes for the same mutation and interestingly, the father had mild unilateral non-progressive sensorineural deafness. [ncbi.nlm.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]

• Hunger

  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]

• Dyslexia

  […] here it is explained - a Spelling Technique for Dyslexic people A Spelling Technique for Dyslexia, but works wonders with most kids. A great way to introduce spelling words. [pinterest.es]

• Short Nose

  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]

  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]

• High Pain Threshold

  (hypothalamic hypogonadism, learning disabilities; behavioral features in childhood include temper tantrums, high pain threshold, sleep disturbances, and skin picking) A Spelling Technique for Dyslexia, but works wonders with most kids. [pinterest.es]

• Tantrums

  (hypothalamic hypogonadism, learning disabilities; behavioral features in childhood include temper tantrums, high pain threshold, sleep disturbances, and skin picking) A Spelling Technique for Dyslexia, but works wonders with most kids. [pinterest.es]

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]