Radioulnar synostosis-developmental delay-hypotonia syndrome

Orpha code: 3270OMIM code: 266255

Definicja

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Der Kaloustian-McIntosh-Silver syndrome
Zespół Der Kaloustiana, McIntosha i Silvera
Kod ORPHA
3270
Kod OMIM
266255
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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