Abstract André Mégarbané, Agnès Sanders, Eliane Chouery, Valérie Delague, Myrna Medlej-Hashim and Paul-Henri Torbey The Journal of Rheumatology May 2002, 29 (5) 1084-1087; Abstract A young boy from nonconsanguineous Palestinian parents presented with short [jrheum.org]

Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies see KBG syndrome short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome see KBG syndrome short stature-onychodysplasia see [herenciageneticayenfermedad.blogspot.com]

stature syndrome, autosomal recessive, with intellectual disability XYLT1 Short stature, idiopathic, X-linked (ISS) SHOX del Short stature, pituitary and cerebellar defects, and small sella turcica LHX4 del Shprintzen-Goldberg craniosynostosis syndrome [uniklinik-freiburg.de]

Ranganath P, Dalal AB .(2013) Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome? Clinical Dysmorphology 22(2): 73-75. [cdfd.org.in]

ISSN 0006-4971 Girisha, KM (2016) Hunting for mutations in Indian patients with hunter syndrome. Indian Pediatrics, 53 (2). p. 117. [eprints.manipal.edu]

Shubha Phadke, Rheumatic Manifestations of Genetic Disorders and Hemophilia, Pediatric Rheumatology, 10.1007/978-981-10-1750-6_47, (595-609), (2016). [doi.org]

The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. [ncbi.nlm.nih.gov]

Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [ncbi.nlm.nih.gov]

Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ncbi.nlm.nih.gov]

Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. [malacards.org]

Winchester syndrome: subcutaneous nodules are characteristically absent, severe osteolysis in the hands and feet, and various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG coarse face Main biochemical alterations [iofbonehealth.org]

Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. [ncbi.nlm.nih.gov]

Research Bone X-Ray (Radiography) Array Calcium Test American Association for Clinical Chemistry Array ALP – blood test ALP isoenzyme test Blount’s disease Bone lesion biopsy Bone pain or tenderness Bone tumor Bowlegs Fibrous dysplasia Osteomalacia Osteopenia [chcrr.org]

The bone abnormalities also lead to short stature.Many affected individuals develop ... subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. [ncbi.nlm.nih.gov]

Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. [malacards.org]

It has a similar phenotype to NOA, but the subcutaneous nodules are absent. Gene MMP2 gene, 16q12.2 (OMIM gene/locus number #120360 ). [iofbonehealth.org]

Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ncbi.nlm.nih.gov]

Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. [malacards.org]

Familial partial lipodystrophy, Dunnigan type Refsum disease Dentatorubral pallidoluysian atrophy Multicentric osteolysis-nodulosis-arthropathy spectrum Faisalabad histiocytosis Familial sinus histiocytosis with massive lymphadenopathy H syndrome Pigmented hypertrichosis [doczz.fr]

Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 2, Issue 1 (Jan-Mar 2009) Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.Link. Dalal A, Mehrotra RN. [cdfd.org.in]

Coarse face and body hirsutism are additional features. Source: Online Mendelian Inheritance in Man [diseaseinfosearch.org]

Coarse face and body hirsutism are additional features. (259600) MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis [malacards.org]

Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]

Other cutaneous manifestations include hyperpigmentation and thickening. Serpiginous hyperpigmented cutaneous lesions are present in a few individuals ( Figures 3C and 3D ) [ Zankl et al 2005, Azzollini et al 2014, Bhavani et al 2016 ]. [ncbi.nlm.nih.gov]

Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and frontal bossing Genetics Home Reference : 26 Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of [malacards.org]

Frontal bossing MedGen UID: 67453 • Concept ID: C0221354 • Congenital Abnormality A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major. [ncbi.nlm.nih.gov]