About dysplasia epiphysialis punctata

What is dysplasia epiphysialis punctata?

Conradi-Hunermann syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Conradi-Hunermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots of calcium on the "growing portion" or heads of the long bones (stippled epiphyses) or inside other areas of cartilage in the body. Conradi-Hunermann syndrome is commonly associated with disproportionate and assymetric shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora), curvature of the spine and mild to moderate growth deficiency, resulting in short stature. Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the lenses of the eyes (cataracts); sparse, coarse scalp hair; and/or abnormal thickening, dryness, and scaling of the skin. Conradi-Hunermann syndrome is inherited as an X-linked dominant trait that occurs almost exclusively in females.

What are the symptoms for dysplasia epiphysialis punctata?

Stippled epiphyses at birth in association with other connective tissue disturbances symptom was found in the dysplasia epiphysialis punctata condition

Dysplasia epiphysealis punctata is a rare condition characterized by the presence of stippled epiphyses at birth in association with other connective tissue disturbances.
It is also known under a variety of names such as chondrodystrophia foetalis calcificans, stippled epiphyses, or congenital multiple epiphyseal dysplasia. It is also called Conradi Disease.

Two main forms are recognized
1. The classic, but rarer, severely rhizomelic type due to an autosomal recessive gene
2. Conradi-Hunermann variety due to an autosomal dominant gene or a mutant gene

Clinical Features of Dysplasia Epiphysealis Punctata
1. In the milder forms, dwarfing at birth is not very marked and there may only be non-specific features, notably a mongoloid facial appearance with a snub nose with flattening, upward slanting of the eyes and Short neck and trunk becoming more obvious as the child grows.
2. Skeletal deformities are mild without significant contracture at birth and later, minor wrist or metacarpal changes or pes planovalgus.
3. Cataracts, skin changes and other general abnormalities are less common in the milder form and deformity may be confined to a single limb or part of it.

Symptoms
Stippled epiphyses at birth in association with other connective tissue disturbances
Conditions
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Drugs
Symptomatic therapy and surgery

What are the causes for dysplasia epiphysialis punctata?

Dysplasia epiphysialis punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases.

1. Dysplasia epiphysialis punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3.
2. The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes.
3. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system.
4. Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function.
5. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens.
6. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms

Symptoms
Stippled epiphyses at birth in association with other connective tissue disturbances
Conditions
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Drugs
Symptomatic therapy and surgery

What are the treatments for dysplasia epiphysialis punctata?

Treatment for Dysplasia Epiphysealis Punctata:

1. In infancy, passive joint movements, or splints for hip dislocation or foot deformities suffice until the natural progress of the disease is apparent.
2. If the child survives but is severely affected, surgery may be needed for correction of deformity by soft-tissue release or, in later childhood, by osteotomy, but decisions to operate should be delayed until it is obviously necessary. The skin is often of poor quality and liable to infection.
3. The spine that develops scoliosis may be especially difficult to manage. An absent vertebral body resulting in severe and progressive kyphoscoliosis may require spine fusion in childhood, as may scoliosis due to unsegmented bars and there is a high incidence of pseudarthrosis.
4. If there are no bony vertebral abnormalities, a Milwaukee brace can be used to delay or diminish progressive curvature.
5. Correction of unequal limb length, which is usually due to femoral shortening, by lengthening procedures, should be considered with caution because of the liability to pseudoarthrosis.
6. In the severest cases, with cerebral defects, surgery must usually be limited to the management of hip adduction deformities by adductor release to allow easier nursing and to try to prevent dislocation.

Symptoms
Stippled epiphyses at birth in association with other connective tissue disturbances
Conditions
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Drugs
Symptomatic therapy and surgery

What are the risk factors for dysplasia epiphysialis punctata?

Dysplasia epiphysialis punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common.

1. The cartilaginous epiphysis shows patchy mucoid degeneration and cystic spaces with irregular vascularization.
2. There is scattered calcification with poor alignment of cartilage columns and the absence of a zone of provisional calcification. Juxta-articular tissues show ectopic calcification.

Progression
1. In severe cases, more than half the children die within the first year of life from secondary infections. Contractures present at birth tend to improve and curved bones may correct spontaneously, though deformity may recur later.
2. Presence of stippled epiphyses at birth is pathognomonic. The size and distribution of the calcification vary from pin-head to lead-shot and from a few specks to extensive areas, usually confined to the region of the cartilaginous epiphysis but sometimes extending to surrounding soft tissues.
3. The most frequently affected epiphyses are the upper and lower femoral, upper tibial, upper humeral, carpal and tarsal, vertebral and pelvis.

Symptoms
Stippled epiphyses at birth in association with other connective tissue disturbances
Conditions
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Drugs
Symptomatic therapy and surgery

Is there a cure/medications for dysplasia epiphysialis punctata?

Cure/ medications for Dysplasia Epiphysealis Punctata:

1. In infancy, passive joint movements or splints for hip dislocation or foot deformities suffice until the natural progress of the disease is apparent.
2. If the child survives but is severely affected, surgery may be needed for correction of deformity by soft-tissue release or, in later childhood, by osteotomy, but decisions to operate should be delayed until it is obviously necessary. The skin is often of poor quality and liable to infection.
3. The spine that develops scoliosis may be especially difficult to manage. An absent vertebral body resulting in severe and progressive kyphoscoliosis may require spine fusion in childhood, as may scoliosis due to unsegmented bars, and there is a high incidence of pseudarthrosis.
4. If there are no bony vertebral abnormalities, a Milwaukee brace can be used to delay or diminish progressive curvature.
5. Correction of unequal limb length, which is usually due to femoral shortening, by lengthening procedures, should be considered with caution because of the liability to pseudoarthrosis.
6. In the severest cases with cerebral defects, surgery must usually be limited to the management of hip adduction deformities by adductor release to allow easier nursing and to try to prevent dislocation.

Symptoms
Stippled epiphyses at birth in association with other connective tissue disturbances
Conditions
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Drugs
Symptomatic therapy and surgery

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