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Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome (MONDO:0011320)

An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.

Overview

Category

syndromic disease

Ontology ID

MONDO:0011320

Internal:12434

Synonyms

Giuffre-Tsukahara syndrome

Giuffré-Tsukahara syndrome

Tsukahara syndrome

Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability

Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation

radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability

radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation

Mapped terms

GARD:0000394

MEDGEN:400399

OMIM:603438

Orphanet:3268

UMLS:C1863881

Child terms

Unknown children.

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