Dysostosis: Causes & Reasons

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Possible Causes for dysostosis

Mucopolysaccharidosis

[…] younger brother showed only slight findings of dysostosis multiplex throughout the treatment period. [ncbi.nlm.nih.gov]

In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis [ncbi.nlm.nih.gov]

Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd9data.com]

Mucopolysaccharidosis Type 2

Extensive palliative care is required, patients must be regularly evaluated by echocardiogram, respiratory function, full radiologic examination to identify dysostosis multiplex [orpha.net]

This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction [genome.jp]

Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. [ghr.nlm.nih.gov]

Coxa Vara

We describe a rare case of unilateral development of coxa vara secondary to metaphyseal dysostosis encountered in a 6-year-old boy. [ncbi.nlm.nih.gov]

metaphyseal diaphyseal dysplasia, and metaphyseal dysostosis. [emedicine.medscape.com]

[…] deformity in metaphysis PFFD / congenital short femur / bowed femur - not congenital really infantile - as appears after birth Dysplasia MED / SED Achondroplasia Cleidocranial dysostosis [52.62.202.235]

Autosomal Dominant Prognathism

Cleidocranial dysostosis. [medical-dictionary.thefreedictionary.com]

Q75.4 Mandibulofacial dysostosis Q75.5 Oculomandibular dysostosis Q75.8 Other specified congenital malformations of skull and face bones Q75.9 Congenital malformation of [icd10data.com]

An anthropometric analysis of cleidocranial dysostosis. J Korean Soc Plast Reconstr Surg 1994;21:121–134. 5. Siggers DC. Cleidocranial dysostosis. [e-acfs.org]

Congenital Mandibular Hypoplasia

Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous [ncbi.nlm.nih.gov]

OMIM: 610536 文献 PMID: 16760738 著者 Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A タイトル A new syndrome with growth and mental retardation, mandibulofacial dysostosis [genome.jp]

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015; 96(5):765-74. [rarediseases.org]

Spondylocostal Dysostosis

Jarcho-Levin syndrome spondylocostal dysostosis, autosomal recessive 3 spondylothoracic dysostosis spondylothoracic dysplasia edit English spondylocostal dysostosis A dysostosis [wikidata.org]

Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. [en.wikipedia.org]

Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used. [ncbi.nlm.nih.gov]

Crouzon Syndrome

A case of combined local surgical and prosthetic treatment in a patient with craniofacial dysostosis (Crouzon Syndrome) is described. [ncbi.nlm.nih.gov]

Craniofacial dysarthrosis Craniofacial Dysostosis Craniofacial dysostosis syndrome Craniofacial dysostosis, type 1; CFD1 Crouzon craniofacial dysostosis Crouzon's Disease [ghr.nlm.nih.gov]

The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzon's and Apert's diseases. [emedicine.com]

Treacher-Collins Syndrome

Mandibulofacial dysostosis is a genetic condition. [symptoma.com]

Similar cases have been reported under the heading of mandibulofacial dysostosis. [ncbi.nlm.nih.gov]

We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p, 46,XY,del(3)(p23p24.12). [ncbi.nlm.nih.gov]

Frontonasal Dysplasia

These clinical findings suggest a new form of acrofacial dysostosis. [ncbi.nlm.nih.gov]

Abstract We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. [doi.org]

Since then several terms have been introduced: Frontonasal dysplasia, frontonasal syndrome, frontonasal dysostosis, and craniofrontonasal dysplasia. [ncbi.nlm.nih.gov]

Cleidocranial Dysplasia

Cleidocranial dysostosis at Curlie [en.wikipedia.org]

Cleidocranial dysostosis comes from the words cleido (collar bone), cranial (head) and dysostosis (abnormal bone forming); it is also known as cleidocranial dysplasia. [web.archive.org]

Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area. [nlm.nih.gov]

Congenital Pseudoarthrosis of Clavicle

Associations cleidocranial dysostosis trisomy 21 neurofibromatosis type 1 Promoted articles (advertising) [radiopaedia.org]

Differential diagnosis Differential diagnosis includes primarily cleidocranial dysostosis and posttraumatic pseudoarthrosis. [orpha.net]

Cleidocranial dysostosis. A review of 40new cases. Am J Roentgenol Radium Ther Nucl Med 1974; 121(1):516.4 Lloyd-Roberts GC, Apley AG, Owen R. [docslide.com.br]

Craniorhiny

22q11 Deletion Syndrome 3MC syndrome Achard syndrome acrodysostosis acrofacial dysostosis acrofrontofacionasal dysostosis acromelic frontonasal dysostosis Agenesis of Cervical [rgd.mcw.edu]

1 Causes of Oxycephaly : Acrocephalopolydactylous Dysplasia Acrocephalopolydactyly Acrocephalopolysyndactyly Type III Acrocephalopolysyndactyly Type IV Acrocraniofacial Dysostosis [familydiagnosis.com]

2 Causes of Oxycephaly : Acrocephalopolydactylous Dysplasia Acrocephalopolydactyly Acrocephalopolysyndactyly Type III Acrocephalopolysyndactyly Type IV Acrocraniofacial Dysostosis [familydiagnosis.com]

Parietal Foramina with Cleidocranial Dysplasia

M.D. [1] Synonyms and Keywords: Cleidocranial digital dysostosis; Cleidocranial dysplasia; Craniocleidodysostosis; Dysostosis cleidocranialis; Dysostosis cleidocraniodigitalis [wikidoc.org]

Osteo-dental-dysplasia (cleido-cranial dysostosis). The “Arnold head.” Acta Med Scand 1951; 139: 292–307 PubMed Google Scholar Jarvis JL, Keats TE. [link.springer.com]

Available from: Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or mutational dysostosis, is a genetic condition affecting bone growth, exhibiting defective [jnsbm.org]

Mucopolysaccharidosis Type 6

The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [orpha.net]

A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally 100 microgram/mg creatinine), mild dysostosis multiplex [orpha.net]

Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. [malacards.org]

Acrocephaly

“Hereditary craniofacial dysostosis, or Crouzon's disease”, Med. Press, 1937, 195, 118. Benda, C. [cambridge.org]

[…] modifications of Craniostenosis are as follows Advanced oxycephaly Brachycephaly Plagiocephaly Hyper-telorism Acrocephaly Incomplete Oxycephaly Scaphocephaly Craniofacial Dysostosis [ijo.in]

The same facial appearance is also characteristic of craniofacial dysostosis (Courzon's disease), which many authors consider identical with acrocephaly. [jamanetwork.com]

Cloverleaf Skull

An autopsy case of cloverleaf skull deformity associated with hydrocephalus, systemic skeletal malformation including facial dysostosis, fused elbow, syndactyly of the toes [ncbi.nlm.nih.gov]

[…] sagittal suture and squamosal sutures with a downward displacement of the ears, severe proptosis or exophthalmos, and facial deformities similar to those of craniofacial dysostosis [jamanetwork.com]

Causes - Kleeblattschaedel syndrome * Crouzon craniofacial dysostosis * Acrocephalopolysyndactyly type 2 * Pfeiffer syndrome Prevention - Kleeblattschaedel syndrome Not supplied [checkorphan.org]

Mucolipidosis

He had coarse facial features and dysostosis multiplex. The first child in his family had died with severe bone pathology at 5 months of age. [ncbi.nlm.nih.gov]

Abstract The phenotype of mucolipidosis type II (ML II), a disorder of lysosomal enzyme transport, includes mucopolysaccharidosis type I (Hurler syndrome)-like features and dysostosis [ncbi.nlm.nih.gov]

Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular [ncbi.nlm.nih.gov]

Gorlin-Chaudhry-Moss Syndrome

craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, Cranofacial dysostosis-hypertrichosis-hypoplasia [monarchinitiative.org]

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome [ebi.ac.uk]

Also known as: craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; craniofacial [rarediseases.oscar.ncsu.edu]

Mucolipidosis Type 1

These individuals have mental retardation, coarse facial features, dysostosis multiplex, and cherry red spots. Hepatosplenomegaly may be present. [ismrd.org]

Type II is additionally characterized by somatic abnormalities, coarse facial features, and dysostosis multiplex and occurs as several variants of increasing severity with [medical-dictionary.thefreedictionary.com]

Facial features are coarse and dysostosis multiplex is present. The infantile form of type II Sialidosis has an onset within the first year of life. [ismrd.org]

Mucopolysaccharidosis Type 1 H

There is a characteristic claw-hand deformity due to phalangial dysostosis. [symptoma.com]

A mild form of dysostosis multiplex may be seen on X-ray. [patient.info]

Radiology: Radiography of the skeleton showing gibbus deformity of the lower spine and characteristic dysostosis of bones. [symptoma.com]

Gorlin-Psaume Syndrome

@article{Gorlin1962OrodigitofacialDN, title {Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.}, author {Robert J. Gorlin and J. [semanticscholar.org]

Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis [esanatos.com]

Digital Syndrome, Type II Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome, Type II Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis [decs.bvs.br]

Fucosidosis

Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis [ncbi.nlm.nih.gov]

[…] including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis [orpha.net]

Skeletal survey demonstrated dysostosis multiplex. The diagnosis was confirmed by leucocyte oligosaccharide enzyme analysis. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 1

Most patients presenting beyond the neonatal period have increased urinary glycosaminoglycans and dysostosis multiplex. [news-medical.net]

A mild form of dysostosis multiplex may be seen on X-ray. [patient.info]

Radiological examination of the skeleton reveals the characteristic pattern of dysostosis multiplex. Hydrocephaly can occur after the age of two. [orpha.net]

Tel Hashomer Camptodactyly Syndrome

[…] diagnosis of diastrophic dysplasia at 16 weeks TR Gollop, A Eigier, JM Opitz, JF Reynolds American journal of medical genetics 27 (2), 321-324, 1987 40 1987 Fronto‐facio‐nasal dysostosis–a [scholar.google.cz]

Genetics Part A 122 (1), 51-55, 2003 27 2003 A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis [scholar.google.cz]

[…] congenital abnormalities—type Waardenburg A Richieri‐Costa, TR Gollop, PG Otto, JM Opitz American journal of medical genetics 14 (4), 607-615, 1983 30 1983 Syndrome of acrofacial dysostosis [scholar.google.cz]

Sprengel Deformity

CASE REPORT Year : 2017 Volume : 6 Issue : 1 Page : 46-49 Jarcho-Levin syndrome (spondylocostal dysostosis) associated with Sprengel deformity 1 Department of Paediatrics, [jcsr.co.in]

Spondylocostal Dysostosis with Sprengel Deformity: A Rare Association Balaji S 1 Indu S V 2 DineshKumar N 3 Raghavendran V D 4 1 Dr Balaji S, Post Graduate student, 2 Dr Indu [medresearch.in]

Spondylo-costal dysostosis with Sprengel's shoulder - Report of a new association with Jarcho-Levin syndrome. Kerala J Orthop 2012;25:103-4. 2. [mjdrdypu.org]

Autosomal-Recessive Robinow Syndrome

The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and [dbpedia.org]

[…] known as Miller syndrome or postaxial acrofacial dysostosis (POADS), is a rare, well-defined malformation syn- drome. [documentslide.com]

Similar costovertebral segmentation defects can be found in autosomal recessive spondylocostal dysostosis (ARSD) (see this term). [orpha.net]

Melhem-Fahl Syndrome

Broca Bony syndrome Matsoukas Liarikos Giannika syndrome Matthew-Wood syndrome Maturity onset diabetes of the young Maumenee syndrome Maxillary double lip Maxillofacial dysostosis [statemaster.com]

Kennedy-Teebi Type 6 1203 HMR037 Humero-Ulnar Synostosis, Bilateral 6 1204 ACR100 Acrofacial Dysostosis, Patagonia Type 6 1205 OSS015 Ossification Anomalies-Psychomotor [malacards.org]

[…] tachycardia Mallory-Weiss syndrome Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Mandibuloacral dysplasia Mandibulofacial dysostosis [bioreference.net]

Postaxial Oligodactyly, Tetramelic

Hypoplasia with Mental Retardation Upper Extremity Deformities, Congenital VACTERL association Viljoen Kallis Voges Syndrome Weill-Marchesani Syndrome 3 Weyers Acrofacial Dysostosis [crrd.mcw.edu]

[…] type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Weyers type Acrofrontofacionasal dysostosis Acromelic dysplasia Acromelic [se-atlas.de]

Dysostosis of genetic origin Dysostosis of genetic origin with limb anomaly as a major feature Dysostosis with brachydactyly Dysostosis with combined reduction defects of [se-atlas.de]

Craniofrontonasal Dysplasia

From Wikidata Jump to navigation Jump to search Human disease craniofrontonasal dysplasia CRANIOFRONTONASAL SYNDROME; CFNS Craniofrontonasal Dysostosis CFNS Craniofrontonasal [wikidata.org]

[…] postaxial, atypical Acrofacial dysostosis, Palagonia type Acrofrontofacionasal dysostosis syndrome Aortic supravalvular stenosis Atelosteogenesis Type III Prevention - Craniofrontonasal [checkorphan.org]

cleft lip/palate, limb hypoplasia and postaxial polysyndactyly: acro-fronto-facio-nasal dysostosis syndrome. [link.springer.com]

Gangliosidosis GM1

Dysostosis multiplex on bone radiograph. Death by around 10 years of age. Adult-onset form: Onset during childhood or adolescence. [accessanesthesiology.mhmedical.com]

Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features [orpha.net]

visceromegaly, dysostosis multiplex, coarsened facial features). It most frequently presents in early infancy and may be evident at birth. [accessanesthesiology.mhmedical.com]