| CHONDRODYSTROPHIA CALCIFICANS CONGENITA | |
| CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE | |
|
215100
OMIM = Online Mendelian Inheritance of Men | |
|
177 | |
| Peroxisomal targeting signal 2 receptor | |
| rare (>200 cases) autosomal recessive mutation in the PEX7 gene poor prognosis | |
| Laboratory findings | Alkyl-dihydroxyacetone-phosphate synthase () Alkyl-dihydroxyacetone-phosphate synthase dec (fibroblasts) Dihydroxyacetone-phosphate acyltransferase (DHAPAT) dec (fibroblasts) Phytanic acid inc (plasma) Phytanic acid oxidation () |
| Symptoms | femora, shortened cataract congenital heart defect contractures, joints dysmorphism epilepsy growth retardation, poor growth hearing defect, deafness ichthyosis infections (respiratory tract/system) infections (severe or recurrent) intellectual disability/intellectual developmental disorder metaphyseal dysplasia shortening of long bones skeletal changes, skeletal abnormalities spastic diplegia/quadriplegia/tetraplegia alopecia humeri, shortened limb abnormalities, limb deformities lymyphedema mental retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal optic atrophy Plasmalogens, biosynthesis punctate calcifications seizures short stature X-ray, abnormalities |