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Τι (ποιος) είναι 3-M syndrome - ορισμός
3-M syndrome
AUTOSOMAL RECESSIVE DISEASE CHARACTERIZED BY DWARFISM, FACIAL DYSMORPHIA AND SKELETAL ABNORMALITIES
Dolicospondylic dysplasia; Le Merrer syndrome; Gloomy syndrome; 3m syndrome; 3-M Syndrome; Dolichospondylic dysplasia; Gloomy face syndrome; Yakut short stature syndrome
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972.
Sugarman syndrome
HUMAN DISEASE
Oral facial digital syndrome type 3; OFD syndrome 3; Oral-facial-digital syndrome type 3; Orofaciodigital syndrome type 3; Sugarman Syndrome; Brachydactyly of the hands and feet with duplication of the first toes; Brachydactyly with major proximal phalangeal shortening
Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders that involve developmental defects to the mouth.
Cockayne syndrome
RARE AND FATAL AUTOSOMAL RECESSIVE NEURODEGENERATIVE DISORDER
Cockayne's syndrome; Neiill-Dingwall syndrome; Neill-Dingwall syndrome; Dwarfism-retinal atrophy-deafness syndrome; Cockayne syndrome type 1; Cockayne syndrome type 2; Cockayne syndrome type 3; Cerebrooculofacioskeletal Syndrome; Cockayne Syndrome type II; COFS syndrome; Pena Shokeir II syndrome; Pena Shokeir syndrome type II; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome, type 2; Cockayne syndrome type A; Cockayne syndrome type B; Cockayne syndrome type C; Cockayne syndrome type III; Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal syndrome 1; Cerebrooculofacioskeletal syndrome 2; Cerebrooculofacioskeletal syndrome 4; Cofs syndrome; Type II Cockayne syndrome; Pena-Shokeir syndrome type II; Cocaine Syndrome; Cocaine syndrome
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.Bender M, Potocki L, Metry D.
