adducted thumbs-arthrogryposis syndrome, Christian type https://www.malacards.org/card/adducted_thumbs_arthrogryposis_syndrome_christian_type https://www.malacards.org/card/adducted_thumbs_syndrome MONDO:0008724 MEDGEN:1875234 OMIM:201550 UMLS:C5975706 Orphanet:2952 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. GARD:0010277 arthrogryposis multiplex congenita obsolete syndrome or malformation associated with head and neck malformations