Synonym(s)
Rubinstein syndrome; broad thumb-hallux syndrome
Definition
Genetic multisystem disorder characterized by broad thumbs and great toes, characteristic facies, and mental retardation
Pathogenesis
Possible autosomal dominant inheritance in some families; gene on the short arm (p) of chromosome 16 (16p13.3); may be caused by point mutation or deletion in gene involved in regulation of CREB binding protein
Clinical manifestation
Skin changes: one or capillary hemangiomas or nevus flammeus lesions on forehead, neck nape, and/or back; cafe au lait spots; keloid formation; hypertrichosis; ingrown finger- or toenails.
Systemic changes: growth retardation; delayed bone age; mental retardation; craniofacial dysmorphism (including hypertelorism, broad nasal bridge, and “beak-shaped” nose); abnormally broad thumbs and great toes; breathing and swallowing difficulties; malformations of the heart, kidneys, urogenital system, and/or skeletal system
Differential diagnosis
Saethre-Chotzen synd...
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References
De Silva B (2002) What syndrome is this? Rubenstein-Taybi syndrome. Pediatric Dermatology 19(2):177–179
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© 2004 Springer-Verlag
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(2004). Rubinstein-Taybi syndrome. In: Levine, N., Levine, C.C. (eds) Dermatology Therapy. A to Z Essentials. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29668-9_2375
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DOI: https://doi.org/10.1007/3-540-29668-9_2375
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-00864-4
Online ISBN: 978-3-540-29668-3
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