Chondrodysplasia punctata

Chondrodysplasia Punctata 2
This disorder is one of a number of skeletal disorders causing shortness of stature and cataracts. The exact classification remains to be determined and awaits more extensive gene studies.
Clinical Correlations ...

Chondrodysplasia punctata ... mild mental retardation, retarded growth, retarded growth
Chondrodysplasia punctata lethal neonatal ... short stature, underdeveloped lungs
Chondrodysplasia punctata with steroid sulfatase deficiency ...

Chondrodysplasia Punctata, X-linked Dominant Type
Chondrodystrophia Calcificans Congenita
Chondrodystrophic Myotonia
Chondrodystrophy, Epiphyseal
Chondrodystrophy, Hyperplastic Form
Chondroectodermal Dysplasia
Chondrogenesis Imperfecta ...

Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctata)
congenital ichthyosiform erythroderma (CIE)
Darier disease
epidermal nevi (ichthyosis hystrix, linear epidermal nevus)
epidermolytic hyperkeratosis (EHK) ...

developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), ...

chondrodysplasia punctata, X-linked dominant
Chondrodystrophic Myotonia
Chondrodystrophy, Epiphyseal
Chondrodystrophy, Hyperplastic Form
Chondroectodermal Dysplasia
Chondroitin and Glucosamine
Chondropathia Tuberosa ...

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By Aughton DJ, AlSaadi AA, Transue DJ ...

They may have skeletal abnormalities, including a large space between the bones of the skull (fontanels) and characteristic bone spots known as chondrodysplasia punctata that can be seen with an X-ray.

Peroxisomes are required for normal brain development and the function and formation of myelin, the whitish material that coats nerve fibers. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctata ...

See also: Dysplasia, Symptom, Dystrophy, Deficiency, Mental retardation