Mohr-Claussen Syndrome (Oral-Facial-Digital Syndrome Type II; OFD Syndrome; Orofaciodigital Syndrome II) 212d38c 212d38c 212d38c 212d38c 212d38c 212d38c 212d38c 212d38c
General: Rare; autosomal recessive; certain features similar to Papillon-Leage-Psaume, Carpenter, Laurence-Moon-Bardet-Biedl, and Ellis-Van Creveld syndromes (see Papillon-Leage-Psaume Syndrome; Laurence-Moon-Bardet-Biedl Syndrome; Ellis-Van Creveld Syndrome).
Ocular: Epicanthus; bridged chorioretinal colobomata.
Clinical: Clefts and fibroma of tongue; polydactylia; broad nasal bridge; narrow-arched palate; short humerus, femur, and tibia; irregular teeth; hypotonia; mental retardation; deafness; thin and fair hair; cerebellar atrophy.
Anneren G, et al. Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). Clin Genet 1990; 38:69-73.
Claussen O. Et Arvelig Syndrome Omfattende Tungemisdannelse og Polydaktyli. Nord Med 1946; 30: 1147.
Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.
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