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tricho-rhino-phalangeal syndrome type 2A 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.
Defects of TRPS1 and EXT1 are present in tricho-rhino-phalangeal syndrome type 2.
Alè,G., Italian radiologist.
Alè-Calò syndrome - Synonym(s): Langer-Giedion syndrome
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
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.