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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(75.3%)		 21416592
 How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Megarbane A.
Am J Med Genet A. 2011;155A(4):880-4.
Short philtrum Upslanted palpebral fissure Short 5th metacarpal
Brachydactyly Congenital Abnormality Congenital Foot Deformity Congenital Hand Deformities Duodenal Obstruction Esophageal Atresia Facies Growth Disorders Heterozygote Homeodomain Proteins Homo sapiens Intellectual Disability Limb Deformities, Congenital Male Microcephaly Missense Mutation Nails, Malformed Phenotype Rubinstein-Taybi Syndrome Syndactyly Syndrome Tracheoesophageal Fistula
2
(53.1%)		 20358606
 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.
Microcephaly Type A1 brachydactyly
Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Facies Females Growth Disorders Homo sapiens Infant Infant, Newborn Intellectual Disability Microcephaly Pregnancy Syndrome
3
(48.8%)		 8305968
 An additional case of pachygyria, joint contractures and facial abnormalities.
Levin ML, Lupski JR, Carpenter RJ Jr, Gerson LP, Greenberg F.
Clin Dysmorphol. 1993;2(4):365-8.
Large fontanelles Sandal gap
Adult Brain Contracture Face Females Homo sapiens Infant, Newborn Joints Male Preterm Infant X-Ray Computed Tomography
4
(39.0%)		 22786695
 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.
Microcephaly
Adult Child Females Homo sapiens Lip Diseases Male Syndrome
4
(39.0%)		 20635354
 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.
Microcephaly
Females Genes, Dominant Genetic Diseases, X-Linked Growth Disorders Homo sapiens Infant, Newborn Microcephaly Syndrome
4
(39.0%)		 18449925
 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.
Microcephaly
Adult Child Females Genetic Diseases, X-Linked Haplotypes Homo sapiens Male Mental Retardation, X-Linked Microcephaly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000288 Abnormality of the philtrum Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000252 Microcephaly 4
HP:0002650 Scoliosis 2
HP:0004322 Short stature 2
HP:0000508 Ptosis 1
HP:0009371 Type A1 brachydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID