Dysostosis: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for Dysostosis

Mucopolysaccharidosis

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

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

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

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 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]

Hemimelia) multiple joints: Arthrogryposis · Larsen syndrome · Rapadilino syndrome Axial Craniofacial Craniosynostosis: Scaphocephaly · Oxycephaly · Trigonocephaly Craniofacial dysostosis [enacademic.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]

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]

Analysis of the 61 cases suggests that there are two major subtypes (spondylocostal dysostosis and spondylothoracic dysostosis) with different survival rates, associated malformations [ncbi.nlm.nih.gov]

Spondylothoracic dysostosis, or Jarcho-Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short-neck [ncbi.nlm.nih.gov]

Frontonasal Dysplasia

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

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

Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and [ncbi.nlm.nih.gov]

Crouzon Syndrome

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]

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

Treacher-Collins Syndrome

Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. [ncbi.nlm.nih.gov]

Abstract Bilateral conductive deafness is common in mandibulofacial dysostosis with or without atresia of the external auditory meatus. [ncbi.nlm.nih.gov]

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

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]

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]

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]

Lytic Bone Lesion

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

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

Acrofacial dysostosis ambiguous genitalia Acrofacial dysostosis atypical postaxial Acrofacial dysostosis Catania form Acrofacial dysostosis Preis type Acrofacial dysostosis [wikidoc.org]

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]

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]

Myelocerebellar Disorder

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

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

[…] syndrome * Matsoukas Liarikos Giannika syndrome * Matthew-Wood syndrome * Maturity onset diabetes of the young * Maumenee syndrome * Maxillary double lip * Maxillofacial dysostosis [en.academic.ru]

Congenital Pseudoarthrosis of Clavicle

Associations cleidocranial dysostosis trisomy 21 neurofibromatosis type 1 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]

Cleidocranial Dysplasia

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

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 at Curlie [en.wikipedia.org]

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

[…] 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]

[…] 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.com]

Muscular Dystrophy-Dystroglycanopathy Type C7

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

[…] myopathy Wildervanck syndrome Riboflavin transporter deficiency Multiple sulfatase deficiency Progeroid short stature with pigmented nevi Michels Caskey syndrome Acrofacial dysostosis [checkrare.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]

Humero-Radial Synostosis

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

[…] thumb Bowed tibia, radial anomaly, osteopenia, fracture syndrome Brachymesophalangia Capitate-hamate synostosis Carpal synostosis Char syndrome Cleft mandible Cleidocranial dysostosis [icdlist.com]

When synostosis is abnormal it is a type of dysostosis. [en.wikipedia.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]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

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]

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]

Mucopolysaccharidosis Type 1 H

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

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

Dysostosis multiplex: enlarged skull, enlarged but shortened bones, malformed pelvis, and other skeletal defects. [patient.info]

Shwachman Syndrome

The main associated features are usually cyclic neutropenia, metaphyseal dysostosis, and growth retardation. [doi.org]

Other features include metaphysial dysostosis, mild hepatic dysfunction, increased frequency of infections. [en.wikipedia.org]

Shwachman Louis Klein Diamond Martin Bodian A rare disorder characterized by exocrine pancreatic insufficiency (the pancreas being replaced by adipose tissue), metaphyseal dysostosis [whonamedit.com]

Pyle's Disease

Holt JF (1969) Jansen's metaphyseal dysostosis. Birth Defects 5: 73 Google Scholar 8. Ozonoff MB (1969) Metaphyseal dysostosis of Jansen. [doi.org]

Michael Gibson, M.S., M.D. [1] Synonyms and Keywords: JMC; Jansen disease; Jansen metaphyseal dysostosis; Jansen type of metaphyseal chondrodysplasia; Murk Jansen type of [wikidoc.org]

Mucopolysaccharidosis Type 4

Radiologically, we could differentiate the dysostosis multiplex from the other conditions. [jcdr.net]

Dysostosis multiplex : progressive skeletal dysplasia. Thickened ribs, clavicles and calvarium. [genetics4medics.com]

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