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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.
Features include: Velopharyngeal insufficiency, Myopathic facies, Cleft palate, and Microcephaly and 11 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 5 | Cleft palate, Microcephaly, Craniosynostosis |
Muscles |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for adducted thumbs-arthrogryposis syndrome, Christian type.
1 publication has been identified in PubMed for adducted thumbs-arthrogryposis syndrome, Christian type. Research spans Basic Science / Preclinical (100%).
Harms FL (2025). [PMID: 40158061](https://pubmed.ncbi.nlm.nih.gov/40158061/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about adducted thumbs-arthrogryposis syndrome, Christian type
4
Myopathic facies, Myopathy, Generalized hypotonia |
Brain and nerves | 3 | Difficulty swallowing (dysphagia), Myelin-dependent gliosis, Cerebral dysmyelination |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |