Clinodactyly
* may be caused by or feature of -
  * 3M syndrome
  * Aarskog syndrome
  * Andersen cardiodysrhythmic periodic paralysis
  * Banki syndrome
  * Bloom syndrome
  * Bowen-Conradi syndrome
  * Brachyolmia type 3
  * Catel-Manzke syndrome
  * Char syndrome
  * Feingold syndrome
  * Hand-foot-uterus syndrome
  * Krause-van Schooneveld-Kivlin syndrome
  *...

Camptodactyly is a medical condition involving fixed flexion deformity of the interphalangeal joints of the little finger. This involves permament flexure of one or more phalanges (fingers).
A number of congenital syndromes may cause camptodactyly: -
* Jacobsen syndrome
* Blau syndrome
* Freeman-Sheldon syndrome
* Cerebrohepatorenal syndrome
* Weaver syndrome
* Christian syndrome 1
* Gordon Syndrome
*...

Gorlin syndrome is an autosomal dominant cancer. Patients with this rare syndrome often have several organ anomalies, many of which are subtle. Study of patients with Gorlin syndrome yields useful information about its neural development and carcinogenesis. Clinicians should be familiar with Gorlin syndrome because patients tend to develop multiple...

Resources for - Skeletal Dysplasias, Achondroplasia, Jeune Syndrome [Asphyxiating Thoracic Dystrophy], multiple exostoses, hormonal short stature, Cartilage-hair hypoplasia, [CHH, Metaphyseal chondrodysplasia, McKusick-type], Chondroectodermal dysplasia, Ellis-van Creveld syndrome, Congenital adrenal hyperplasia, DeMorsier syndrome [Septo optic dysplasia], Diastrophic dysplasia, Ellis-van Creveld syndrome [EvC], Growth-hormone deficiency, Hypochondrogenesis, Hypochondroplasia, Hypopituitarism, Growth-hormone deficiency, Hypopituitary...

Synonyms and related keywords: hyperlordosis, lordosis, kyphosis, scoliosis, congenital scoliosis, sacral agenesis, lumbosacral agenesis, cervical spine anomalies, basilar impression, invagination, occipitalization of the atlas, assimilation of the atlas into the occipital bone, occipitocervical synostosis, odontoid anomalies, Klippel-Feil syndrome, Trisomy 21 syndrome, Down syndrome, deletion 5p syndrome, chromosomal number 5 syndrome,...

Reflex sympathetic dystrophy syndrome (RSDS) has been recognized since the Civil War when it was called causalgia, a name chosen to describe intense, burning extremity pain after an injury. Since then, RSDS has had a number of name changes. Bonica coined the term reflex sympathetic dystrophy in 1953. The American...

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...

Also known as: Caffey's syndrome I Caffey-Smyth syndrome Smyth-Caffey syndrome De Toni-Caffey syndrome De Toni-Caffey-Silverman syndrome De Toni-Silverman-Caffey syndrome Roske-De Toni-Caffey syndrome Roske-De Toni-Caffey-Silverman syndrome Roske-De Toni-Caffey-Smyth syndrome Description: Probably familial disease of infants affecting skeleton and adjacent tissues. It is characterized by fever, irritability, swelling of soft tissues, and cortical bone thickening. The mandible is usually involved, less commonly the...

There is no single unifying trait for these disorders. Some have their genetic defect well characterized. Others are still waiting for the discovery of the gene or genes which are damaged. The diagnosis requires careful clinical laboratory evaluation and may require testing for enzymes that are...

Surprisingly, many upper extremity malformations cause little functional deficit.1 Children develop prehension with hands as they are, and they usually are not self-conscious of difference until they become socialized in school. In contrast, parents may be dismayed by the appearance of an anomalous hand and may be hoping that surgery...

In 1881, Richard von Volkmann reported the effects of ischemia on the soft-tissue components of a limb compartment. The contractures that developed were named after him. Wilson first described the initial case of exertional compartment syndrome in 1912. Mavor, in 1956, first reported a case of chronic compartment syndrome. Since...

Brown-Séquard syndrome is defined as an incomplete lesion of the spinal cord characterized by ipsilateral upper motor neuron paralysis and loss of proprioception with contralateral loss of pain and temperature sensation. A zone of partial preservation or segmental ipsilateral lower motor neuron weakness and analgesia may be noted. Loss of...

Synonyms and related keywords: SPS, stiff man syndrome, SMS, stiff baby syndrome, SBS, hyperekplexia, Moersch-Woltmann syndrome, stiff woman syndrome, stiff limb syndrome
Author: Nancy Rodgers-Neame, MD, Assistant Professor, Department of Pharmacology and Therapeutics, University of South Florida, Florida Comprehensive Epilepsy and Seizure Disorders Program
Clinically, stiff person syndrome is characterized by...

Alternative titles; symbols ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA; PFD; POFD this phenotype is associated with mutations in the GNAS1 gene (139320). The McCune-Albright syndrome, usually caused by mosaicism for a mutation in the GNAS1 gene, is characterized by polyostotic fibrous dysplasia, pigment patches of the skin and endocrinologic abnormalities, including precocious puberty, thyrotoxicosis,...

Cockayne syndrome Edward Alfred Cockayne (18801956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature, and have the appearance of premature aging. In the classical...

Wallace & Smith 2007
The compartments of the lower leg, foot, and the volar forearm are particularly prone to developing CS. The intrinsic muscle compartments of the hand and, less commonly, the upper arm may also be affected. The most common etiology of an upper extremity CS is a displaced supracondylar...

Synonym(s) Trichorhinophalangeal syndrome type 2 ICD Q87.8 Langer-Giedon syndrome or trichorhinophalangeal syndrome type 2 is characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped...

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Alternative titles; symbols LANGER-GIEDION SYNDROME; LGS Gene map locus 8q24.11-q24.13 TEXT A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome involving loss of functional copies of the TRPS1 (604386) and EXT1...

Cockayne syndrome may cause or feature - Miscellaneous syndromes Leucodystrophy Symptoms and Signs Ataxia Microcephaly Peripheral neuropathy Photosensitivity of skin Premature aging Retinal pathology Sensorineural hearing loss Short stature X-ray abnormalities Intracranial calcification Psychiatric conditions Learning disability may be associated with -Congenital conditions Tricho-thiodystrophy Xeroderma pigmentosum Belongs in the category of Autosomal recessive conditions Cockayne syndrome: Definition(s) via UMLS.....Code translations and terms via UMLS. "A syndrome characterized by multiple system abnormalities...

Focal Dermal Hypoplasia Syndrome Last Updated: February 16, 2006 Author: Wendy Lee, MD, Assistant Professor of Dermatology, Department of Dermatology, Uniformed Services University of Health Sciences Coauthor(s): Robert W Goltz, MD, Clinical Professor, Department of Internal Medicine, Section of Dermatology, University of California at San Diego Focal dermal hypoplasia (FDH) is an...

Ectodermal dysplasia may be caused by or feature of the following Congenital conditions Papillon Lefevre syndrome Mendelian inherited conditions Hypohidrotic X-linked ectodermal dysplasia Olmsted syndrome Autosomal dominant conditions Acro-dermato-ungual-lacrimal-tooth syndrome Hay-Wells syndrome Hidrotic ectodermal dysplasia Jadassohn-Lewandowsky syndrome Rapp-Hodgkin ectodermal dysplasia syndrome Witkop's syndrome Autosomal recessive conditions Margarita Island ectodermal dysplasia Meleda disease Tyrosinaemia type 2 X-linked inherited conditions BRESHECK syndrome Focal dermal hypoplasia Hypohidrotic ectodermal dysplasia with immune deficiency Ectodermal...

Author: Satishchandra Kale, MD, FRCS 2005
Reflex sympathetic dystrophy (RSD) is a condition that is often described under various synonyms that point to its incompletely understood etiology. In 1864, Weir Mitchell coined the term causalgia to designate severe pain following nerve injury. In 1900, Sudeck described regional demineralization accompanying posttraumatic pain....

Mucopolysaccharides consist of glycosaminoglycans attached to a link protein with a hyaluronic acid core. Lysosomal enzymes degrade these macromolecules into smaller components. Heparan sulfate, dermatan sulfate, and keratan sulfate are by-products of an incomplete degradation process. The accumulation of these compounds interferes with cell function. Different forms of the disease were...

302380 CATEL-MANZKE SYNDROME
Alternative titles;
HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME
PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY
INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE
Pierre Robin syndrome with anomaly of both index fingers (accessory ossicle at the base with resulting ulnar deviation). The first case was reported briefly...

Scoliosis, Superior Mesenteric Artery Syndrome, and Adolescent idiopathic scoliosis is defined as a lateral curvature of the spine that can occur in any region of the spinal column. For curves that require surgical correction, spinal fusion is the surgical treatment, and superior mesenteric artery syndrome is a possible complication. Risk factors...