Multiple epiphyseal dysplasia, Lowry type

Orpha code: 166016OMIM code: 601560

Definition

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

Disease data
Classification

Disease

Synonyms
Multiple epiphyseal dysplasia with Robin phenotype
Dysplazja wielonasadowa z fenotypem Robina
ORPHA code
166016
OMIM code
601560
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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