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🔗 CustomizeMedical Overview of Adducted Thumbs-Arthrogryposis Syndrome, Christian Type
Sources citedA 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, microgenia 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 have been described since 1983.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
Adducted Thumbs-Arthrogryposis Syndrome, Christian Type Family Conference
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Care & management overview — Adducted Thumbs-Arthrogryposis Syndrome, Christian Type
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Adducted Thumbs-Arthrogryposis Syndrome, Christian Type News & Developments
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Patient & Family Guides
Sources citedAn annual snapshot of Adducted Thumbs-Arthrogryposis Syndrome, Christian Type research, treatment access and outcomes, written in plain language for patients and families.
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Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.