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[OCOSH Code: D004413 109420003 Q74 BD_DBD_DO]

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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
Premature closure of cranial sutures
Congenital ossification of cranial sutures
Congenital ossification of sutures of skull
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
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


Case 67. Sprengel Deformity

Location: http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/sprengle.htm

HISTORY: This is a 5 + 3 year old white female the product of a full-term normal spontaneous vaginal delivery with a diagnosis of CHARGE syndrome (defects of the eyes, ears, heart, choanal atresia, mental retardation, and genital hypoplasia) who presented for evaluation of a webbed neck left side worse...

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craniosynostosis (premature sutural fusion) CHORUS

Location: http://chorus.rad.mcw.edu/doc/00102.html

* males (75%)
sagittal (56%)
bilateral coronal or lambdoidal (11%)
brachy-, turri- or acrocephaly
associated with:
Apert syndrome

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Crouzon syndrome CHORUS

Location: http://chorus.rad.mcw.edu/doc/00104.html

* craniofacial dysostosis
* autosomal dominant
* premature closure of sutures (craniosynostosis)
o usually coronal ==> brachycephaly
o all sutures ==> Kleeblatschaedel

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Dwarfism and Dysplasias Wheeless

Location: http://www.wheelessonline.com/ortho/dwarfism_and_dysplasias

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: ...

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Skeletal Dysplasia

Location: http://www.global-help.org/publications/books/help_skeletaldysplasia.pdf

Poster on Skeletal Dysplasias from Dupont Institute
Notes 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

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Skeletal Dysplasias eMedicine

Location: http://www.emedicine.com/ped/topic625.htm

Background: Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age. If short stature is proportional, the condition may...

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Sprengel deformity CHORUS

Location: http://chorus.rad.mcw.edu/doc/00380.html

congenital elevation of scapula
  * 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

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Sprengel Deformity eMedicine Orthopedics

Location: http://www.emedicine.com/orthoped/topic445.htm

Sprengel deformity is a complex anomaly that is associated with malposition and dysplasia of the scapula. This condition also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement.
Synonyms 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