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multiple epiphyseal dysplasia

   Also found in: Acronyms, Wikipedia 0.01 sec.
multiple epiphyseal dysplasia
Fairbank disease Pediatrics A mild AD form of dwarfism Clinical Pain in hips, knees or ankles in later childhood, due to developmental hip defects; height is slightly ↓; arm, leg, finger or toe lengths may be markedly ↓; movement may be restricted. Cf Dwarfism.


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Pseudoachondroplasia appears to develop secondarily to a mutation within the genes encoding for cartilage oligomeric matrix protein (COMP) on chromosome 19 and is most closely related to multiple epiphyseal dysplasia (MED/EDM1), a disorder also characterized by a mutation of the COMP.
All of these featu res were consistent with a very narrow range of differential diagnoses, of which SED congenita was the most likely, followed by multiple epiphyseal dysplasia and type IV mucopolysaccharidosis (Morquio's syndrome).
Differential considerations for this condition include multiple exostosis, enchondromatosis, multiple epiphyseal dysplasia, Turner's syndrome without LWD, achondroplasia, chondroectodermal dysplasia, and hypoparathyroidism.
 
 
multiple endocrine deficiency syndrome
multiple endocrine deficiency syndrome
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Multiple endocrine neoplasia
Multiple endocrine neoplasia
Multiple endocrine neoplasia
Multiple Endocrine Neoplasia and Zollinger/Ellison syndrome
Multiple Endocrine Neoplasia Syndrome Type 1
Multiple Endocrine Neoplasia Syndrome Type 2B
Multiple Endocrine Neoplasia Syndrome Type-2A
Multiple Endocrine Neoplasia Syndromes
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple Endocrine Neoplasia Type 2 Syndromes
Multiple Endocrine Neoplasia Type I
Multiple Endocrine Neoplasia Type II
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia, type 2
Multiple Endocrine Neoplasia, Type 2a
Multiple Endocrine Neoplasia, Type IIB
Multiple Endocrine Neoplasias Type I
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