Gamuts

Kyphomelic dysplasia

RNase MRP (also called RMRP) is an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. RNAse MRP stands for RNAse for mitochondrial RNA processing. [Source: Wikipedia ]

Synonyms
Kyphomelic dysplasia several forms
OrphaNet reference
Kyphomelic dysplasia 
May Cause
Bowed bones
Bowed femur
Bowed tubular bones
Broad tubular bones
Camptodactyly
Cleft lip/palate
Congenital midface hypoplasia
Decreased number of ribs
Eleven pairs of ribs
Epiphyseal necrosis
Facial hypoplasia
Flaring of ribs
Lethal skeletal dysplasia
Limited joint mobility
Mesomelic dwarfism
Mesomelic limb shortness
Platyspondyly
Rhizomelic dwarfism
Rhizomelic limb shortness
Sacrococcygeal appendage
Short ribs
Skin dimple
Symmetrical anterior rib flaring
Wide diametaphysis

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