Skeletal Dysplasia

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

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2-5 Ml Venous Blood Sample / DNA sample
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Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally.

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10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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The frontonasal dysplasia is a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline.

Test Details
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Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample / DNA sample
Alternative:

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Delivery Time:
10 days
Sample:
2-5 mL EDTA-Blood - Lavender Top Tube
Alternative:

Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Osteogenesis imperfecta is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. Type VII is an autosomal recessive form of severe or lethal.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Osteogenesis imperfecta is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Osteogenesis imperfecta is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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Seathre-Chotzen Syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. The phenotype is variable and can range from no detectable clinical manifestations to complex findings.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
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