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1.

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310). [from OMIM]

MedGen UID:
419371
Concept ID:
C2931264
Congenital Abnormality
2.

Arthrogryposis

Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect. [from MCA/MR]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome

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