Langer-Giedion syndrome

tricho-rhino-phalangeal syndrome type 2

A hereditary condition (OMIM:150230) with features of both tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1, and which is characterised by multiple dysmorphic facial features (e.g., large, laterally protruding ears, a bulbous nose, an elongated upper lip and sparse scalp hair), winged scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation.

Molecular pathology
Defects of TRPS1 and EXT1 are present in tricho-rhino-phalangeal syndrome type 2.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Alè,

G., Italian radiologist.

Alè-Calò syndrome - Synonym(s): Langer-Giedion syndrome

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Giedion,

Andreas, Swiss pediatric cardiologist, 1925–.

Giedion syndrome - genetic recessive or dominant trait causing orofacial defects and abnormalities of the phalanges. Synonym(s): trichorhinophalangeal syndrome

Langer-Giedion syndrome - see under Langer, Leonard O, Jr

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Langer,

Leonard O., Jr., U.S. radiologist, 1928–.

Langer-Giedion syndrome - syndrome of mental retardation accompanied by numerous physical abnormalities. Synonym(s): Alè-Calò syndrome

Langer-Saldino syndrome - fatal form of neonatal dwarfism.

Langer syndrome - skeletal dysplasia of short-limbed dwarfism.

Medical Eponyms © Farlex 2012