Dysostosis Causes & Reasons

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Test neu starten

Caution! In case of an emergency:

Seek emergency care

Hi, I'm Symptoma.

Dysostosis Symptom Checker: Possible causes include Mucopolysaccharidosis. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Possible Causes

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]

Show info

Mucopolysaccharidosis 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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Mucopolysaccharidosis 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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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.it]

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.it]

[…] 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.it]

Show info

Mucopolysaccharidosis 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]

Show info

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]

Show info

Mucopolysaccharidosis 1H

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Hypomandibular Faciocranial Dysostosis

Causes - Hypomandibular faciocranial dysostosis Not supplied. Prevention - Hypomandibular faciocranial dysostosis Not supplied. [checkorphan.org]

MalaCards based summary : Hypomandibular Faciocranial Dysostosis is related to dysostosis. [malacards.org]

We report on a third case of hypomandibular faciocranial dysostosis and review the literature. [ncbi.nlm.nih.gov]

Show info

X-Linked Mandibulofacial Dysostosis

Acrofacial dysostosis, Nager type 0 *Mandibulofacial Dysostosis. Acrofacial dysostosis Rodriguez type 0 *Hand Deformities, Congenital *Mandibulofacial Dysostosis. [reference.md]

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

Nager's acrofacial dysostosis. [jofs.in]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.