A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.
Comprehensive, easy-to-understand information about this condition
Checking for content...
prenatal-onset spinal muscular atrophy with congenital bone fractures
MONDO:0000209
arthrogryposis multiplex congenita 2, neurogenic type
MONDO:0008823
fetal akinesia deformation sequence
MONDO:0008824
arthrogryposis multiplex congenita-whistling face syndrome
MONDO:0008825
arthrogryposis-hyperkeratosis syndrome, lethal form
MONDO:0008826
multiple pterygium-malignant hyperthermia syndrome
MONDO:0009012