Radioulnar synostosis-microcephaly-scoliosis syndrome

Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
22786695
 MIXED_SAMPLE Child
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of Giuffre-Tsukahara syndrome?
Zhu Y, Jin K, Mei H, Li L, Liu Z, Yang Y, Tang J, He X, Zhao R, He X.
Am J Med Genet A. 2012;158A(8):2036-42.
The lack of microcephaly in the family suggested a variant of Giuffe-Tsukahara syndrome but could represent variability
20358606
 FEMALE Infant, Newborn
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroglu K, Devriendt K.
Am J Med Genet A. 2010;152A(4):947-9.
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
20635354
 FEMALE Infant, Newborn
Giuffre-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
Dalal AB, Sarkar A, Priya TP, Nandineni MR.
Am J Med Genet A. 2010;152A(8):2057-60.
We report on a girl with Giuffre-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis.
18449925
 MIXED_SAMPLE Child
Clinical delineation of Giuffre-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
Gaspar H, Albermann K, Baumer A, Schinzel A.
Am J Med Genet A. 2008;146A(11):1453-7.
Clinical delineation of Giuffre-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
18449925
 MIXED_SAMPLE Child
Clinical delineation of Giuffre-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
Gaspar H, Albermann K, Baumer A, Schinzel A.
Am J Med Genet A. 2008;146A(11):1453-7.
From a clinical synopsis, we consider the Giuffre-Tsukahara syndrome as one genetic entity, which is characterized by the association of microcephaly and radio-ulnar synostosis, mental retardation in male patients and variable minor features.