DA3 (Gordon syndrome)
Gordon syndrome (GS) is a rare genetic condition that causes early onset (mostly prenatal) joint contractures on hands, fingers, feet and toes. Additional features that are often present are midline cleft palate or bifid uvula (split uvula), micrognathia (small chin). These features may cause feeding and swallowing problems and may cause aspiration of the nutrients into the lung, which increases the risk of lung infections. Body length remains short in about 2/3 of the affected individuals. Some additional features, such as scoliosis (sideway curving of the spine) or ptosis (droopy eyelid). Neurodevelopmental problems are generally not expected in Gordon syndrome. There is no curative therapy for Gordon syndrome. However, early physiotherapeutic interventions prevent the progression of contractures and help to maintain limb function.
DA5 (oculomelic amyoplasia)
Distal arthrogryposis type 5 (DA5) (or oculomelic amyoplasia) is a rare genetic condition that causes early onset (mostly prenatal) joint contractures on hands, fingers, feet and toes. Additional features are ophthalmoplegia (weakness or paralysis of one or more extraocular muscles, which are responsible for eye movements) or ptosis (droopy eyelid). All individuals with PIEZO2-related DA5 have normal intelligence. Short body length is reported in 1/3 of affected individuals. Stiffness of the spine is reported in 1/5 of the affected individuals. The spine stiffness increases the risk for shortness of breath and restrictive lung diseases. It usually develops in childhood or early adulthood. For this reason, pulmonary examinations (i.e. lung function tests, spirometry) are recommended to prevent the progression of lung restriction, regardless the presence of stiff spine. There is no curative therapy for DA5. However, contractures in early phase respond to physiotherapy. Individuals with severe contractures may need multiple orthopaedic procedures to preserve the function of the affected limbs/fingers.
Marden-Walker Syndrome
Marden-Walker Syndrome (MWS) is an extremely rare genetic syndrome that causes early onset (mostly prenatal) joint contractures. This syndrome is also characterized with blepharophimosis (horizontally narrow palpebral fissures), ptosis (droopy eyelid), reduced facial expression, diminished muscular bulk, and variable brain malformations leading to intellectual disability. There is no curative therapy for Marden-Walker syndrome. Overall life expectancy is compromised by a variety of potential complications such as pneumonia or epilepsy.
Arthrogryposis, distal, with impaired proprioception and touch (DAIPT)
DAIPT is a rare inherited disorder affecting the nervous and muscular systems. It is characterized by multiple join contractures (usually clubfoot), low muscular tone and possibly respiratory distress at birth, which may require oxygen support. The muscular weakness increases the risk of developing respiratory infections. The affected individuals have a low stature and even if their motor development is delayed, they can walk with help of ortheses. They often develop scoliosis and the joint contractures. Both could require surgical correction. Affected individuals usually show problems in perceiving vibrations, light touch and the position of their limbs in the space with their eyes closed. They usually do not have any intellectual disability, even though their speech could be unclear. There is no cure for DAIPT. Joint contractures, scoliosis may require surgery and walking usually require artificial aids.