Synonyms

Mucolipidosis type III

Pseudo-Hurler polydystrophy

Pseudopolydystrophy

OrphaNet reference

Mucolipidosis type 3 

Is A

Mucolipidosis

Subtypes

Mucolipidosis III alpha/beta type

Mucolipidosis III gamma type

May Cause

Abnormal odontoid process

Aortic valve disease

Aortic valve prolapse

Atlantoaxial instability

Brachydactyly

Broad middle phalanges

Cardiac valve thickening

Cardiomyopathy

Congenital atlantoaxial subluxation or instability

Congenital cardiomyopathy

Congenital heart disease

Congenital premature craniosynostosis

Congenital prognathism

Congenital short hands and feet

Corneal abnormality

Coxa valga

Craniosynostosis

Delayed bone age

Dense epiphyses of hands and feet

Fragmented or irregular femoral head

Generalized small epiphyses

Mitral valve disease

Mitral valve prolapse

Multiple abnormal epiphyses

Retarded skeletal maturation

Self-mutilation

Short ribs

Small acetabular angle

Thick ribs

Tricuspid valve prolapse

Type B pelvis