rhizomelic chondrodysplasia punctata type 1

info · Syndrome · ICD-10: Q77.3

A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.

Signs and symptoms

Flared metaphysis
Severe short stature
Upslanted palpebral fissure
Delayed CNS myelination
Rhizomelia
Alopecia
Cerebral cortical atrophy
Flexion contracture
Seizure
Flat face

Also known as: PBD9; Peroxisome Biogenesis Disorder 9; RCDP1