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]
There were no pronounced signs of dysostosis multiplex on radiographs.[ncbi.nlm.nih.gov]
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]
Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.[ghr.nlm.nih.gov]
X-rays - show features of dysostosis multiplex which are due to disordered ossification at varied sites. Audiometry. Brain CT/MRI - characteristic cerebral changes.[patient.info]
Jarcho-Levin Syndrome
Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used.[ncbi.nlm.nih.gov]
Spondylocostal dysostosis is a rare hereditary disorder associated with multiple vertebral and rib anomalies.[ncbi.nlm.nih.gov]
Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects[ncbi.nlm.nih.gov]
Mandibulofacial Dysostosis
Mandibulofacial dysostosis is a genetic condition.[symptoma.com]
Similar cases have been reported under the heading of mandibulofacial dysostosis.[ncbi.nlm.nih.gov]
The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies.[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]
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.medscape.com]
Gorlin-Chaudhry-Moss Syndrome
, craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, Cranofacial dysostosis-hypertrichosis-hypoplasia[monarchinitiative.org]
Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped[ncbi.nlm.nih.gov]
, Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome[ebi.ac.uk]
Autosomal Dominant Spondylocostal Dysostosis
Spondylocostal dysostosis (Spondylocostal dysostosis) - Genes DLL3, Hes7, LFNG, MESP2, RIPPLY2 and TBX6 The spondylocostal disostosis is a group of diseases characterized[ivami.com]
Acronym SCDO5 Synonyms Costovertebral segmentation anomalies Scoliosis, congenital, with or without rib anomalies Spondylocostal dysplasia Spondylothoracic dysostosis Keywords[uniprot.org]
Name Spondylocostal Dysostosis 5 Synonyms COSTOVERTEBRAL SEGMENTATION ANOMALIES , SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES , SPONDYLOCOSTAL DYSPLASIA , SPONDYLOTHORACIC[mousephenotype.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]
The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis[ncbi.nlm.nih.gov]
Nager Syndrome
Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial dysostosis.[ncbi.nlm.nih.gov]
We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome.[ncbi.nlm.nih.gov]
Abstract We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation[ncbi.nlm.nih.gov]