Chondrodysplasia punctata

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes. [Source: Wikipedia ]

Chondrodysplasia punctata brachytelephalangic type
Chondrodysplasia punctata Conradi-Hünermann type
Chondrodysplasia punctata rhizomelic type
Chondrodysplasia punctata Sheffield type
Chondrodysplasia punctata X-linked recessive type
May Cause
Abnormal eyelashes
Abnormal odontoid process
Asymmetrically small bones of one hand
Atlantoaxial instability
Broad middle phalanges
Chondral calcification
Congenital foot deformity
Congenital midface hypoplasia
Congenital premature craniosynostosis
Congenital short limbs
Congenital vertebral abnormality
Congenitally abnormal pelvis
Contracted hand
Coronal cleft vertebrae
Defective pubic ossification
Delayed closure of fontanelles
Delayed ossification of the pubic bone
Depressed nasal bridge
Fragmented or irregular femoral head
Fragmented, irregular, or sclerotic carpal or tarsal bones
Genu valgum
Hip dislocation
Hip subluxation
Intra-articular calcification
Irregular epiphyseal ossification centers
Irregular epiphysis
Joint subluxation
Large fontanelle
Laryngeal anomaly
Lethal skeletal dysplasia
Malformed patella
Multiple abnormal epiphyses
Multiple calcaneal ossification centers
Multiple osteosclerotic bone lesions
Multiple sclerotic foci in an infant or child
Odontoid aplasia
Odontoid hypoplasia
Optic atrophy
Periarticular calcification
Preaxial polydactyly
Premature tracheobronchial cartilage calcification
Pubic bone nonossification
Pulmonary artery stenosis
Sclerotic epiphysis
Short metacarpal
Small or dysplastic carpal and/or tarsal bones
Soft-tissue calcification
Stippled epiphyses
Thin ribs
Thoracic dysplasia
Vertebral malsegmentation
Wavy ribs
Wide metaphysis
Wide sutures