Larsen syndrome- recessive type
Overview
A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
Symptoms
* Flat face * Depressed nasal bridge * Bossed forehead * Widely spaced eyes * Lax joints * Knee dislocation * Femoral dislocation * Elbow dislocation * Hip dislocation * Equinovalgus * Equinovarus * Long fingers * Cylindrical fingers * Spatulate thumbs * Short metacarpals * Cleft palate * Teeth abnormalities * Abnormal vertebral segmentation * Congenital heart defects * Hydrocephalus * Laryngotracheomalacia * Low-set ears * Abnormal curvature of the spine * Osteoporosis * Syndactyly
Causes
* Infectious –Reactive arthritis (postenteric or genital including Reiter syndrome, postviral, poststreptococcal) –Acute rheumatic fever (ARF): Migratory, painful; usually affects large joints; diagnosis is based on Jones criteria, which includes five major (arthritis, carditis, Sydenham chorea, erythema marginatum, subcutaneous nodules) and several minor (fever, arthralgia, elevated ESR or CRP, prolonged P-R interval) manifestations –Lyme disease: Arthritis is monoarticular or oligoarticular, is rarely symmetric, and is the second most common manifestation of Lyme disease after erythema migrans –SBE-related arthritis –Septic polyarthritis (unusual) * Rheumatic –Polyarticular JRA: Arthritis in five or more joints in first 6 months of disease, insidious onset, symmetric involvement, may be RF+ (erosive, similar to adult RA) or RF- –Systemic-onset JRA: Presents with severe systemic involvement (fever, rash, serositis), which may precede the arthritis, usually oligoarticular –Juvenile ankylosing spondylitis (JAS): Initially affects lower extremity joints; later affects axial skeleton, also affects tendons –Psoriatic arthritis –Arthritis of IBD: Usually more transient than JRA –SLE: May present only with arthritis, may be misdiagnosed as JRA –Other connective tissue diseases (scleroderma ) –Vasculitis (HSP, Kawasaki disease) * Malignancy such as leukemia * Other systemic disorders: Serum sickness, sarcoidosis, Behçet disease, Ehler-Danlos syndrome, mucopolysaccharidoses, Noonan syndrome, Turner syndrome * Medications (minocyline, carbamazapine) * Sickle cell disease
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Larsen syndrome, recessive type. This medical information about signs and symptoms for Larsen syndrome, recessive type has been gathered from various sources, may not be fully accurate, and may not be the full list of Larsen syndrome, recessive type signs or Larsen syndrome, recessive type symptoms. Furthermore, signs and symptoms of Larsen syndrome, recessive type may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Larsen syndrome, recessive type symptoms.