Adducted thumbs-arthrogryposis syndrome, Christian type
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; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Adducted thumbs-arthrogryposis syndrome, Christian type?
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