Synonyms

Pseudoleprechaunism

OrphaNet reference

Pseudoleprechaunism syndrome, Patterson type 

May Cause

Abnormal odontoid process

Atlantoaxial instability

Brachydactyly

Congenital atlantoaxial subluxation or instability

Congenital short hands and feet

Congenital short limbs

Congenital vertebral abnormality

Congenital widespread osteosclerosis

Cutis laxa

Delayed bone age

Dense or thick skull

Diabetes mellitus

Hirsutism

Indistinct frayed metaphyses

Large hands for age

Metaphyseal fragmentation

Metaphyseal spur

Multiple sclerotic foci in an infant or child

Osteosclerosis

Platyspondyly

Retarded skeletal maturation

Round vertebrae

Skin pigment abnormality

Transverse dense metaphyseal bands