Dysostoses
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Dysostoses
[OCOSH Code: D004413 109420003 Q74 BD_DBD_DO]
Categories
- Craniosynostosis syndrome (0)
- A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.
MeSH Term "Synostosis"[mesh]
ICD-10 Code Q75.0 Craniosynostosis
SNOMED-CT term Craniosynostosis syndrome (disorder) Concept ID: 57219006
Synonyms Craniosynostosis syndrome
Craniostosis
Craniosynostosis
Premature closure of cranial sutures
Congenital ossification of cranial sutures
Congenital ossification of sutures of skull
Craniostenosis
Craniosynostosis syndrome (disorder)
CSO - Craniosynostosis
Premature cranial suture closure
OCOSH Code: D003398 57219006 Q75.0 BD_DBD_DO_CSO - Focal Dermal Hypoplasia (7)
- A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
MeSH Term "Focal Dermal Hypoplasia"[mesh]
ICD-10 Code Q82.8 Other specified congenital malformations of skin
SNOMED-CT Term Focal dermal hypoplasia (disorder) Concept ID: 205573006
Synonyms
Focal dermal hypoplasia
FDH - Focal dermal hypoplasia
FODH - Focal dermal hypoplasia
Focal dermal hypoplasia (disorder)
OCOSH Code: D005489 205573006 Q82.8 BD_DBD_DO_FDH - Klippel Feil Syndrome (7)
- A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited.
MeSH Term "Klippel-Feil Syndrome"[mesh]
ICD-10 Code Q76.1 Klippel-Feil syndrome
SNOMED-CT Term Klippel-Feil sequence (disorder) Concept ID: 5601008
Synonyms Klippel-Feil sequence
Klippel-Feil syndrome
Klippel-Feil deformity
Cervical vertebral fusion syndrome
Cervical vertebral fusion
Klippel-Feil sequence (disorder)
Cervical fusion syndrome
KFS - Klippel-Feil syndrome
OCOSH Code: D007714 5601008 Q76.1 BD_DBD_DO_KF
- Orofaciodigital Syndromes (9)
- Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
MeSH Term "Orofaciodigital Syndromes"[mesh]
ICD-10 Code Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
SNOMED-CT term Oral-facial-digital syndrome (disorder) Concept ID: 52868006
Synonyms Oral-facial-digital syndrome
OFD syndrome type I
Orodigitofacial dysostosis
Papillon-Leage and Psaume syndrome
Orofacial-digital syndrome
Orofacial-digital syndrome I
Papillon-Leage-Psaume syndrome
Papillon-Leage syndrome
OFD I - Orofacial-digital syndrome I
Oral-facial-digital syndrome (disorder)
OCOSH Code: D009958 52868006 Q87.0 BD_DBD_DO_OFD - Radioulnar Synostosis (2)
- Congenital fusion of upper limb bones - various patterns
MeSH Search term "synostosis"[mesh]
ICD-10 Code Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle SNOMED-CT term Radioulnar synostosis (disorder) Concept ID: 33313004
OCOSH Code: D013580 33313004 Q74.0 BD_DBD_DO_RUSO - Rubinstein Taybi Syndrome (2)
- A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
MeSH Term "Rubinstein-Taybi Syndrome"[mesh]
ICD-10 Code Q87.2 Congenital malformation syndromes predominantly involving limbs
SNOMED-CT term Rubinstein-Taybi syndrome (disorder) Concept ID: 45582004
OCOSH Code: D012415 45582004 Q87.2 BD_DBD_DO_RT
Resources
Case 67. Sprengel Deformity
Location: http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/sprengle.htmView Details Visit Resource Review It Rate It Bookmark It Added: Mon Feb 04 2002
craniosynostosis (premature sutural fusion) CHORUS
Location: http://chorus.rad.mcw.edu/doc/00102.htmlsagittal (56%)
scaphocephaly/dolichocephally
bilateral coronal or lambdoidal (11%)
brachy-, turri- or acrocephaly
associated with:
Apert syndrome
...
View Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002
Crouzon syndrome CHORUS
Location: http://chorus.rad.mcw.edu/doc/00104.html* autosomal dominant
* premature closure of sutures (craniosynostosis)
o usually coronal ==> brachycephaly
o all sutures ==> Kleeblatschaedel
...
View Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002
Dwarfism and Dysplasias Wheeless
Location: http://www.wheelessonline.com/ortho/dwarfism_and_dysplasiasView Details Visit Resource Review It Rate It Bookmark It Added: Thu Nov 30 2006
Skeletal Dysplasia
Location: http://www.global-help.org/publications/books/help_skeletaldysplasia.pdfNotes and illustrations on Initial evaluation, Achondroplasia, Spondyloepiphyseal Dysplasia, Multiple Epiphyseal Dysplasia, Diastrophic Dysplasia, Pseudoachondroplasia & Morquio Syndrome William G. Mackenzie, MD; Charles I. Scott, Jr, MD; Linda Nicholson, MS, MC
View Details Visit Resource Review It Rate It Bookmark It Added: Wed Jun 10 2009
Skeletal Dysplasias eMedicine
Location: http://www.emedicine.com/ped/topic625.htmView Details Visit Resource Review It Rate It Bookmark It Added: Mon Dec 18 2006
Sprengel deformity CHORUS
Location: http://chorus.rad.mcw.edu/doc/00380.html* rotated --> inferior edge points medially
* uni- or bilateral
# almost always a/w Klippel-Feil syndrome
# +/- omocervical (or "omovertebral") bones:
* joins scapula to C5 or C6
View Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002
Sprengel Deformity eMedicine Orthopedics
Location: http://www.emedicine.com/orthoped/topic445.htmSynonyms and related keywords: Sprengel's deformity, Sprengel anomaly, Sprengel's anomaly, congenital high scapula, congenital elevation of the...
View Details Visit Resource Review It Rate It Bookmark It Added: Thu Apr 03 2008