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]

These findings were consistent with “dysostosis multiplex congenita”. [eurorad.org]

Mucopolysaccharidosis Type 2

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

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

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

Coxa Vara

Metaphyseal dysostosis. Valgus osteotomy. Total hip arthroplasty. [go.gale.com]

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]

Citation metadata Document controls Main content Abstract : We describe a rare case of unilateral development of coxa vara secondary to metaphyseal dysostosis encountered [go.gale.com]

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]

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. [rarediseases.org]

Spondylocostal Dysostosis

A diagnosis of dysostosis spondylothoracic is confirmed, and the patient was discharged at 7 days of age, with follow up neonatal consultation at high risk. [eprints.uanl.mx]

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]

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]

This association of anomalies suggests the diagnosis of a “new” type of acrofronto‐facio‐nasal dysostosis. [onlinelibrary.wiley.com]

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]

Objectives: The term Craniofacial dysostosis (CFD) is used to describe familiar forms of synostosis involving different sutures of the cranial base and midface. [moh-it.pure.elsevier.com]

Treacher-Collins Syndrome

[…] 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]

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

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

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]

I., “Dysostosis of skull, face and extremities (acrocephalosyndactyly)”, Amer. J. Dis. [cambridge.org]

Mucolipidosis Type 1

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

The more severe (infantile or type I) phenotype includes rapidly progressive mental retardation, hepatosplenomegaly, severe dysostosis multiplex, and often death between 3 [ommbid.mhmedical.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]

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]

First called "craniofacial dysostosis", the disorder was characterized by a number of clinical features. [kemiamusa.blogspot.com]

Mucolipidosis

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]

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]

Congenital Pseudoarthrosis of Clavicle

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

Differentiation from cleidocranial dysostosis and post-traumatic pseudarthrosis is made. [journals.lww.com]

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

Cleidocranial Dysplasia

The gene for cleidocranial dysostosis has been found on chromosome 6 in band p21. Also known as cleidocranial dysplasia and craniocleidodysostosis. [medicinenet.com]

By Cleidocranial dysostosis or dysplasia is a genetically transmitted skeletal dysplasia affecting mainly membranous bones. [boneandspine.com]

Cleidocranial dysostosis: A genetic disorder of bone development that is characterized by absent or incompletely formed collarbones and cranial and facial abnormalities that [medicinenet.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

Causes of the condition may include: 1 Causes of Overfolded Helix : 22q11.2 Deletion Syndrome 6p22 Microdeletion Syndrome Acrofrontofacionasal Dysostosis 2 Autosomal Recessive [familydiagnosis.com]

[…] 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.it]

Guion-Almeida Type Mandibulofacial Dysostosis-Microcephaly Syndrome Marshall-Smith Syndrome Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome Microphthalmia, Syndromic [familydiagnosis.com]

Myelocerebellar Disorder

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

Malo-Malp * Malonic aciduria * Malonyl-CoA decarboxylase deficiency * Malouf syndrome * Malpuech facial clefting syndrome Man * Mandibuloacral dysplasia * Mandibulofacial dysostosis [en.academic.ru]

Mallory-Weiss syndrome Malo-Malp Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Man Mandibuloacral dysplasia Mandibulofacial dysostosis [academickids.com]

Mucopolysaccharidosis Type 6

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

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

Very few patients had the skeletal features of classical dysostosis multiplex. [scholars.northwestern.edu]

Mucopolysaccharidosis Type 1

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

Husler coined the term dysostosis multiplex to describe the skeletal findings. The radiological features in our patient were consistent with dysostosis multiplex. [sajr.org.za]

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

Craniorhiny

22q11 Deletion Syndrome + 3MC syndrome + Achard syndrome acrodysostosis + acrofacial dysostosis + acrofrontofacionasal dysostosis acromelic frontonasal dysostosis Agenesis [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]

Mucopolysaccharidosis Type 1 H

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

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

Synonyms: Hurler's disease, dysostosis multiplex, gargoylism, lipochondrodystrophy Type of: monogenic disease, monogenic disorder an inherited disease controlled by a single [vocabulary.com]

Mucopolysaccharidosis Type 1S

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

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

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]

Psaume}, journal={The Journal of pediatrics}, year={1962}, volume={61}, pages={ 520-30 } } Orodigitofacial dysostosis occurs in approximately 1 in 100 patients with cleft [semanticscholar.org]

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]

Craniometadiaphyseal Dysplasia

Plauchu Fitch Syndrome Mandibulofacial Dysostosis + Maxillofacial Dysostosis Oculomaxillofacial Dysostosis Tricho-Dento-Osseous Syndrome 1 Whistling Face Syndrome, Recessive [rgd.mcw.edu]

Gorlin, R., Sedano, H.O. ( 1968 ), Craniometaphyseal dysostosis and craniodiaphysial dysostosis. Modern Medicine, 36 : 154 – 155. [cambridge.org]

Craniometaphyseal Dysplasia Hurler Syndrome Goltz Syndrome Fibrodysplasia Oral-Facial-Digital Syndrome Ectodermal Dysplasia Grolin Syndrome Clouston Syndrome Cleidocranial Dysostosis [wvpd.com]

Amaurosis-Hypertrichosis Syndrome

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]

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

dysostosis Weyers type Acrofacial dysostosis, Nager type Acrofacial dysostosis, Palagonia type Acrokeratoelastoidosis of Costa Acromegaloid changes cutis verticis gyrata [starrepublic.org]

Humero-Radial Synostosis

⌊ Humeroradial Synostosis ⌊ Humeroradioulnar Synostosis Synostosis (a dysostosis) ⌊ Radio-Ulnar Synostoses ⌊ Tarsal Synostoses (Tarsal Synostosis) ⌊ Syndactyly ⌊ Lambdoid [wellnessadvocate.com]

Brachydactyly-all 3 phalanges Brachydactyly-missing phalanx Brachymesophalangia Brachymetacarpia Camptodactyly Camptodactyly-little finger Carpal synostosis Cleidocranial dysostosis [emedcodes.com]

755.59 converts approximately to: 2015/16 ICD-10-CM Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle 755.59 Excludes Applies To Cleidocranial dysostosis [icd9data.com]

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]