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Microcephaly-brachydactyly-kyphoscoliosis syndrome
rareMicrocephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
- Identifiers
- MONDO:0018091 Orphanet:3433
- Part of
- Congenital limb malformationHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySkeletal system disorderSyndromic disease
- Also known as
- microcephaly brachydactyly kyphoscoliosis · microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability · Viljoen Kallis Voges syndrome · Viljoen-Kallis-Voges syndrome
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