Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Radiographic features: Mild microcephaly. The first metacarpal is short and oval with a delta epiphysis; two triangular ossification centres of the proximal phalanx of the thumb result in radial angulation. There is a short second metacarpal, an accessory phalanx of the second proximal phalanx and short middle phalanges. Similar abnormalities are present in the middle finger and in the feet. The accessory phalanges of the proximal phalanges are positioned adjacent to each other. Symphalangism develops in later childhood. There is camptodactyly and soft tissue syndactyly. Carpal and tarsal fusions may be present.
Weaver Syndrome
Dongyou Liu in Handbook of Tumor Syndromes, 2020
Management of Weaver syndrome requires multidisciplinary approaches (including pediatric, orthopedic, neurological, and cardiological care). Learning/behavior/speech assessment and support are indicated for affected patients showing developmental delay and/or learning disability. Surgical intervention may be required for those with toe camptodactyly. Physiotherapy may benefit those experiencing joint pain secondary to ligamentous laxity or joint contractures, or those with abnormal muscle tone. Treatment is routinely prescribed for those with scoliosis. Other measures may be undertaken when appropriate [5].
The wrist
Ashley W. Blom, David Warwick, Michael R. Whitehouse in Apley and Solomon’s System of Orthopaedics and Trauma, 2017
They must be given a diagnosis, an indication of prognosis, reassurance about the future and a long-term plan of treatment, including a schedule of surgery, which may require staged operations over a number of years. Many manage well throughout life with untreated congenital anomalies. It follows that in some conditions the indication for surgery is clear, for example release of ring constrictions causing limb ischaemia in a neonate. In others, such as treatment of adolescent camptodactyly, decision making may be more difficult.
Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study
Published in Disability and Rehabilitation, 2018
Unni Steen, Lena Lande Wekre, Nina Køpke Vøllestad
Examination of the hand function showed that 16 participants (73%) had camptodactyly. Nine (41%) had contractures in both the proximal interphalangeal joints and the distal interphalangeal joints of all the fingers, except the thumbs. The metacarpophalangeal joints had limited movements, which affected opening and closing of the power grip. Eight persons (36%) had cupped hands and minimally active movements in the finger joints. Half of those with cupped hands had hypermobile finger joints. All participants had a kind of adducted thumb-in-palm, and all of them had contracted carpometacarpal joints in an adducted position. Only three participants had complete thumb-in-palm contractions as shown in Figure 2. Eleven (50%) of the participants had adduction in the carpometacarpal joint in the thumb together with hyperextension in the metacarpophalangeal joint and/or interphalangeal joint, as shown in Figure 3. No functional problems or pain was described as a consequence of hyperextension.
A developing portrait of hereditary periodic fevers in childhood
Published in Expert Opinion on Orphan Drugs, 2018
NF-κB is a ubiquitous transcription factor associated with a host of inflammatory responses that may cause powerful effects on cellular differentiation and also regulate cell death: final result of NF-κB pathway activation is the massive release of different proinflammatory cytokines. As an example, we have Blau syndrome (OMIM 186580), a familial form of granulomatous disease, and early-onset sarcoidosis (OMIM 609464), which is its sporadic variant, caused by mutations in the NOD2/CARD15 gene encoding the multidomain cytosolic NOD2 protein, a key-regulator of innate immunity acting as bacterial detector [58]. Blau syndrome-related mutations are located in the NACHT-domain and activate NF-κB pathway in the absence of bacterial wall triggers [59]. This rare disease with dominant autosomal inheritance is characterized by recurrent polyarthritis leading to camptodactyly, severe uveitis, and brown-colored scaly rash: histology can reveal noncaseating granuloma, and joints might appear severely swollen or bulging over time; airways are normally not involved in Blau syndrome, differently from early-onset sarcoidosis [60]. ‘Pediatric granulomatous arthritis’ is the term now used to portray Blau syndrome and early-onset sarcoidosis: their final diagnosis is based both on clinical features and genetic testing. The response to nonsteroidal-anti-inflammatory drugs is usually disappointing, and treatment must rely on corticosteroids, immunosuppressant drugs, TNF inhibitors, or IL-1 antagonists [61].
Neurological complications of Zika virus infection
Published in Expert Review of Anti-infective Therapy, 2018
Arthrogriposis and other osteoarticular malformations have been seen in severe cases and were associated with poor intrauterine movement and thinning of spinal cord. A neurogenic origin with secondary involvement or motor neurons has been proposed. Arthrogriposis can happen following degeneration of long descending tracts and motor neurons of corticospinal tract in spinal cord and brainstem, causing decreased fetal movements and even akinesia, and fixed postures and deformities [38,39]. Thinning of spinal cord and reduced ventral roots has been seen on spine MRI in CZS patients having arthrogryposis [40]. Other orthopedic abnormalities include hip dislocation, clubfoot, camptodactyly, and contractures with flexed wrist and fingers [41].
Related Knowledge Centers
- Birth Defect
- Blau Syndrome
- Jacobsen Syndrome
- Syndrome
- Interphalangeal Joints of The Hand
- Genetic Disorder
- Dominance
- Expressivity
- Lumbricals of The Hand
- Congenital Contractural Arachnodactyly