The following condiDons are congenital disorders or alteraDons in development that may have clinical consequences and may mimic other condiDons. InvesDgate the following condiDons. Include a descripDon of the condiDon, relevant clinical history, any associated clinical findings, associated clinical or systemic features and any addiDonal informaDon you feel may be important as a chiropractor. (also incl. reference/s).
A. Congenital Radio-ulnar Synostosis
A: History and overview: Refers to a rare, congenital malformaDon of the proximal ends of the radius and ulnar. There are two classificaDons/types. Type 1: primary radio-ulnar synostosis; proximal end of radius is malformed and fused to the ulnar. Type 2: the radial head is found in a fixed, dislocated (anterior or posterior) posiDon. This type is oUen the secondary formaDon found in bilateral cases (e.g. type 1 in the right arm and type 2 in the leU), (Hansen & Andersen, 1970). Risk factors: GeneDcs (most cases) and family history (in bilateral cases) play a role. It is most prevalent in females, rather than males. It is most common the right hand, rather than the leU hand (Hansen & Andersen, 1970). Clinical signs/symptoms: Reduced mobility, or enDre loss mobility of the forearm (pronaDon/ supinaDon) and thus, reduced motor skills of the proximal upper extremiDes. Typically, the hand presents fixed in pronaDon. The shoulder can be seen to compensate for the lack of movement, and thus shoulder complaints and condiDons start to arise as a consequence if the condiDon is not dealt with promptly (Hansen & Andersen, 1970). Physical ID: ObservaDon of the elbow ROM and posiDon during screening shortly aUer birth. As said above, the typical physical presentaDon is a fixed pronated posiDon of the elbow. Lab/imaging: X-rays to confirm. Management: Surgical, but unfortunately, is rarely affecDve (Hansen & Andersen, 1970).
B. Ulna Minus Variant
A: History and overview: Ulnar minus variant, aka: negaDve ulnar variance, is a condiDon affecDng the wrist region. The ulnar appears shorter relaDve the the radius and carpal bones and ligament laxity is observed within the distal ulnar and carpal joints (Voorhees DR, 2020). The exact cause is unknown, however it is known to be associated with Colle’s fractures, trauma and Kienbock’s disease (Heydari-Kamjani, et. al. 2019). Clinical signs/symptoms: There’s typically an instability in wrist extension and flexion, scapho-lunate dissociaDon can be discriminated during circumducDon of the wrist, and perilunate dislocaDons/subluxaDons are known to occur (Voorhees DR, 2020). Physical ID: Carpal/wrist instability during MP and PROM of the wrist. Possible crepitus or clicking when taking the wrist through circumducDon (Voorhees DR, 2020). Lab/imaging: X-rays. Management: ConservaDve treatments rarely help. Surgical: radial shortening osteotomy is most affecDve (Heydari-Kamjani, et. al. 2019).
C. Madelung’s Deformity A: History and overview: A deformity of the distal radial ulnar joint (distal epiphysis of the radius) during growth stages of life. Imaging will oUen show a malformaDon of the radial bone itself (curved), and a shortening of the radio-ulnar ligament, as the growth of the joint is disturbed during developmental ages (Nielsen, 1977). Risk factors: GeneDcs (e.g. MD is common in dwarfism) or other disturbances of growth during developmental ages (e.g. dysplasia). Most commonly occurring in women and those with family history (Nielsen, 1977). Clinical signs/symptoms: Can vary from mild, to severe cases. Pain and poor ROM in the wrist. The deformity will usually present as though there is a dislocaDon of the proximal end of the radius, there there is a prominence to the styloid process of the radius (Nielsen, 1977). Lab/imaging: X-ray. Management: Usually surgical if ROM of the wrist is limiDng the quality of life for the individual (i.e. depending on the severity).
D. Syndactyly A: History and overview: A deformity commonly known as “webbed fingers/toes”. It is the most common occurring deformity of the limbs in humans. This deformity parDcularly occurs in the digits of the hands or foot (Maisels, 1962). It is usually caused by a failure of digits to separate during foetal development (i.e. organogenesis), (Malik, 2012). Risk factors: Hereditary; underlying mutaDons or gene defects and can occur, or it can occur as a result of a burns trauma. The occurrence of this condiDon is most common in feet rather than hands, and in men more than women (Malik, 2012). Clinical signs/symptoms: If acquired at birth, a progressive disturbance in gait and/or fine motor skills of the upper extremiDes/peripheral limbs can be seen as the child ages. CompensaDon in gait (if Syndactyly in toes) and compensaDon in hand motor skills (if Syndactyly in fingers) will be observed. Physical ID: ObservaDon of the fingers and/or hands having a “webbed appearance” during screening shortly aUer birth, or following a burns trauma (Malik, 2012). Management: RehabilitaDve exercises over the developmental years, and onwards or if classed as a more severe form, surgery will be required.
E. Acro-osteolysis A: History and overview: A condiDon in which there is a progressive disappearance of bone Dssue in the distal phalanges of either the feet or hands (although this can occur in other bony structures). This destrucDve process of the bone is usually associated with other hereditary or systemic diseases such as systemic sclerosis (Arana-Ruiz & Amezcua-Guerra, 2016). The region in which is deterioraDng can be helpful in determining its underlying cause (e.g. what associated condiDon is causing the destrucDon of bone Dssue). For example, an evenly spread deterioraDon - from Dp, to body to base - of the distal phalange would indicate hyperparathyroidism, psoriasis, neurological disorders or frostbite. Other condiDons which can cause destrucDon of certain parts of the distal phalange would include: rheumatoid arthriDs, erosive osteoarthriDs and other rheumaDc diseases (Kemp, 1986). Risk factors: History/diagnosis of autoimmune diseases, arthropathies and systemic condiDons increase the risk of acro-osteolysis. (Kemp, 1986). Lab/imaging: X-ray.
Reference list:
Arana-Ruiz, J., & Amezcua-Guerra, L. (2016). Acro-osteolysis as an Indicator of Severity in Systemic
Sclerosis. Reumatología Clínica (English Edi5on), 12(5), 263-266. doi: 10.1016/j.reumae.2015.11.010. Heydari-Kamjani, M., Afraz, S., Herrera, D., Demory Beckler, M., & Kesselman, M. M. (2019). RepeDDve Microtrauma and NegaDve Ulnar Variance as Possible Culprits of Avascular Necrosis of the Lunate. Cureus, 11(10), e5943. hops://doi.org/10.7759/cureus.5943. Hansen, O., & Andersen, N. (1970). Congenital Radio-Ulnar Synostosis:Report of 37 Cases. Acta Orthopaedica Scandinavica, 41(3), 225-230. doi: 10.3109/17453677008991509 Kemp, S. (1986). Acro-osteolysis. JAMA, 255(15), 2058. doi: 10.1001/ jama.1986.03370150100036. Maisels, D. (1962). Acrosyndactyly. Bri5sh Journal Of Plas5c Surgery, 15, 166-172. doi: 10.1016/ s0007-1226(62)80021-6. Malik, S. (2012). Syndactyly: phenotypes, geneDcs and current classificaDon. European Journal Of Human Gene5cs, 20(8), 817-824. doi: 10.1038/ejhg.2012.14. Nielsen, J. (1977). Madelung's Deformity:A Follow-Up Studg of 26 Cases and a Review of the Literature. Acta Orthopaedica Scandinavica, 48(4), 379-384. doi: 10.3109/17453677708992012. Voorhees DR, e. (2020). Carpal ligamentous disrupDons and negaDve ulnar variance. - PubMed - NCBI. Retrieved 10 May 2020, from hops://www.ncbi.nlm.nih.gov/pubmed/ 4001966.
