Dysostosis: Causes & Reasons

Possible Causes for Dysostosis

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

[…] 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]

Mucopolysaccharidosis Type 2

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

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

It is characterized by progressive somatic involvement (including dysostosis multiplex) with vague or no intellectual dysfunction. [news-medical.net]

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

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]

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]

HFM is also known as craniofacial microsomia, first and second branchial arch syndrome, otomandibular dysostosis, and lateral facial dysplasia. [radiopaedia.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]

The spine and rib abnormalities cause other signs and symptoms of spondylocostal dysostosis. [symptoma.com]

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]

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]

Other Names for This Condition CFD1 Craniofacial dysarthrosis Craniofacial dysostosis Craniofacial dysostosis syndrome Craniofacial dysostosis type 1 Crouzon craniofacial [medlineplus.gov]

Crouzon Muunkieliset termit englanti Craniofacial Dysarthroses Craniofacial Dysarthrosis Craniofacial Dysostoses Craniofacial Dysostosis Syndrome Craniofacial Dysostosis [finto.fi]

Treacher-Collins Syndrome

Treacher-Collins Syndrome - Mandibulofacial Dysostosis (MFD1). [news-medical.net]

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

[…] mandibulofacial dysostosis man·di·bu·lo·fa·cial dysostosis man-.dib-yə-lō-.fā-shəl- n a dysostosis of the face and lower jaw inherited as an autosomal dominant trait and characterized [medicine.academic.ru]

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]

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. [medical-dictionary.thefreedictionary.com]

Congenital Pseudoarthrosis of Clavicle

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

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]

Fitzwilliams DCL (1910) Hereditary cranio-cleido-dysostosis. Lancet 2:1466–1475 CrossRef Google Scholar 2. [link.springer.com]

Parietal Foramina with Cleidocranial Dysplasia

Michael Gibson, M.S., M.D. [1] Synonyms and Keywords: Cleidocranial digital dysostosis; Cleidocranial dysplasia; Craniocleidodysostosis; Dysostosis cleidocranialis; Dysostosis [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]

2013/4/1/245/107318 Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or mutational dysostosis, is a genetic condition affecting bone growth, exhibiting [jnsbm.org]

Tel Hashomer Camptodactyly Syndrome

[…] familiale Hashomer Camptodactylie syndrome Malformation Syndrome complexe Système ostéoarticulaire pathologie Tissu conjonctif pathologie Homme Keyword (en) Arabic Camptodactyly Dysostosis [pascal-francis.inist.fr]

[…] 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.com]

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.com]

Coxa Vara

[…] deformity in metaphyseal dysostosis. [musculoskeletalkey.com]

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]

Hallermann-Streiff Syndrome

頭蓋顔面奇形　craniofacial abnormality 頭蓋顔面異骨症　craniofacial dysostosis ハラーマン症候群　Hallermann's syndrome WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。 [lsd-project.jp]

The new syndrome was later defined as HSS, underlining the differences with regard to Franceschetti’s mandibulofacial dysostosis. [semanticscholar.org]

Mandibulofacial dysostosis Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is an autosomal dominant craniofacial genetic disorder involving the first [eyewiki.aao.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]

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]

[…] stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following: MPS IH – Corneal clouding, hepatosplenomegaly, skeletal deformities (dysostosis [emedicine.medscape.com]

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]

Finland all are autosomal recessive, except MPS II which has X-linked inheritance Embryology lysosomal storage begins before birth mental retardation skeletal deformities - dysostosis [emilytam.com]

Mucopolysaccharidosis Type 1 H

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]

It is characterized by progressive somatic involvement (including dysostosis multiplex) with vague or no intellectual dysfunction. [news-medical.net]

Acrocephaly

dysostosis) 756.0 Tower skull 756.0 with exophthalmos 756.0 Treacher Collins' syndrome (incomplete facial dysostosis) 756.0 Trigonocephaly 756.0 Turricephaly 756.0 [icd9data.com]

B., “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]

Mucopolysaccharidosis Type 1S

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

Colombia, Pasto Palabras clave: Mucopolisacaridosis tipo VI, glicosaminoglicanos, disostosis múltiples, Galsulfasa, Mucopolysaccharidosis type VI, glycosaminoglycans, multiple dysostosis [revistamedicina.net]

It is characterized by progressive somatic involvement (including dysostosis multiplex) with vague or no intellectual dysfunction. [news-medical.net]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

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

Achondrogenesis Acrodysostosis, with or without hormone resistance Acromelic frontonasal dysostosis Acromesomelic dysplasia, Maroteaux type ADULT syndrome, split hand-foot [qlinics.com]

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]

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]

Gorlin-Psaume Syndrome

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

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

Orodigitofacial dysostosis: a new syndrome. J Pediatr 1962; 61: Grob M. Dysplasia linguo-facialis. In: Lehrbuch der kinderheikunde. Stuttgart: Thieme, 1957:98. [esanatos.com]

Fucosidosis

(b-e) Dysostosis multiplex. [ncbi.nlm.nih.gov]

Keywords: Dysostosis multiplex, fucosidosis, hypomyelination, neuroregression, stem cell transplantation How to cite this article: Muthusamy K, Thomas MM, George RE, Alexander [pediatricneurosciences.com]

Individuals usually have mild coarsening of facial features, dysostosis multiplex, mental retardation enlarged liver, spleen and/or heart involvement. [web.archive.org]

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]

Amaurosis-Hypertrichosis Syndrome

[…] ambiguous genitalia Acrofacial dysostosis atypical postaxial Acrofacial dysostosis Catania form Acrofacial dysostosis Preis type Acrofacial dysostosis Rodriguez type Acrofacial [statemaster.com]

Causes of Coarse hair Some of the causes of the condition may include: Causes of Coarse Hair : Acrofacial Dysostosis, Catania Type Acroosteolysis Dominant Type Amaurosis-Hypertrichosis [familydiagnosis.com]

Acrofacial dysostosis Rodriguez type[?] Acrofacial dysostosis Weyers type[?] Acrofacial dysostosis, Nager type[?] Acrofacial dysostosis, Palagonia type[?] [encyclopedia.kids.net.au]

Autosomal-Recessive Robinow Syndrome

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

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]

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

Melhem-Fahl Syndrome

109420003 Melhem Fahl syndrome 732263008 ancestors sorted most to least specific Dysostosis 109420003 Skeletal dysplasia 105986008 Congenital anomaly of skeletal bone 8447006 [findacode.com]

Maternal hyperphenylalaninemia Mathieu De Broca Bony syndrome Matsoukas Liarikos Giannika syndrome Matthew-Wood syndrome Maumenee syndrome Maxillary double lip Maxillofacial dysostosis [en.wikipedia.org]

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]

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]

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]