Skeletal Dysplasia Follow-up

Updated: Mar 02, 2015
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Follow-up

Further Outpatient Care

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  • To prevent inappropriate counseling, do not offer genetic counseling until the diagnosis is confirmed by a clinician experienced in skeletal dysplasias.
    • In an autosomal dominant disorder, the risk that an affected parent will have an affected child is 50%. For unaffected parents, the risk is negligible, except when germinal mosaicism occurs.
    • When both parents have the same autosomal dominant condition, such as achondroplasia, the offspring have (1) a 25% chance of having normal stature, (2) a 50% chance of having typical achondroplasia, and (3) a 25% chance of having homozygous achondroplasia, which is lethal.
    • When one parent has an autosomal dominant skeletal dysplasia condition (eg, achondroplasia) and the other parent has a different autosomal dominant skeletal dysplasia (eg, hypochondroplasia) the offspring have (1) a 25% chance of having normal stature, (2) a 25% chance of having achondroplasia, (3) a 25% chance of having hypochondroplasia, and (4) a 25% chance of having heterozygous for the achondroplasia-hypochondroplasia compound with intermediate severity.
    • In an autosomal recessive disorder, the parents are obligatory carriers with a 25% risk that each child will have the disorder.
    • In an X-linked recessive disorder in which the mother is a carrier, a male child has a 50% risk of being affected and a female child has a 50% risk of being a carrier.
  • Assistance with research and diagnosis is available from various organizations. Cedars-Sinai Medical Center is a referral center for the diagnosis, management, and etiology of skeletal dysplasia. The contact information is as follows: International Skeletal Dysplasia Registry
  • Medical Genetics Institute
  • 8700 Beverly Blvd
  • West Tower, Suite 665
  • Los Angeles, CA 90048
  • Phone: 800-CEDARS-1 (800-233-2771) or 310-423-9915
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Complications

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  • Intrauterine complications: Polyhydramnios and fetal hydrops are typically seen in patients with lethal types of chondrodystrophy, such as achondrogenesis or thanatophoric dysplasia. Occasionally, polyhydramnios may be seen in patients with nonlethal types of chondrodystrophy, such as achondroplasia.
  • Respiratory complications: Respiratory distress secondary to small chest, small lungs, small or collapsing trachea, or small upper airway is seen in patients with many types of chondrodystrophy, such as asphyxiating thoracic dystrophy. Infants may snore, may have upper airway obstruction, or may experience hypoxic episodes.
  • CNS complications: Hydrocephalus can occur in several types of skeletal dysplasia, notably in achondroplasia, metatropic dysplasia, and other conditions that affect the base of the skull, resulting in small foramen magnum and jugular foramen.
  • Skeletal complications: Instability of the C1-C2 cervical spine that leads to spinal cord compression or nerve damage may be observed in patients with several types of chondrodystrophy, such as achondroplasia, SED congenita, and Morquio syndrome. Vertebral abnormalities, hip dysplasia, tight and loose joints, osteoarthritis, bowed legs, and fractures may vary.
  • Muscular complications: Truncal hypotonia may lead to kyphoscoliosis in infants with achondroplasia or mucopolysaccharidoses. Thoracolumbar kyphosis may revert to marked lordosis in achondroplasia.
  • Otolaryngologic complications: Progressive deafness is associated with repeated middle ear infections in patients with diastrophic dysplasia and achondroplasia. Hearing loss can be conductive or neurosensory in origin.
  • Ophthalmologic complications: Myopia may predispose the patient to retinal detachment in Kniest dysplasia and SED congenita.
  • Dental complications: Malocclusions, dental crowding, and structural abnormalities of teeth may be present in patients with many types of chondrodystrophy.
  • Nutritional complications: Obesity is often a problem in patients with some types of chondrodystrophy, especially achondroplasia.
  • Other complications
    • Anesthesia can be a problem in patients with some chondrodysplasias.
    • Unstable cervical vertebrae should be excluded.
    • Malignant hyperthermia may occur during anesthesia in patients with some types of chondrodysplasia, such as osteogenesis imperfecta.
    • Numerous obstetric and gynecologic problems are common in women with disproportionately short stature. Cesarean delivery of a baby may be required because of a contracted pelvis in the mother.
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Prognosis

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  • Although certain skeletal dysplasias are lethal in the newborn or infancy periods, patients with other types of skeletal dysplasia have normal or near-normal life expectancy. For patients with nonlethal skeletal dysplasias, prognosis depends on the degree of skeletal abnormalities and concomitant anomalies.
  • Some patients may have difficulty finding a marital partner.
  • Men with skeletal dysplasia complain less often of psychiatric symptoms and feel less stigmatized than do women.
  • Medical and social aspects of the life course for adults with a skeletal dysplasia include the following: [33]
    • Overall, strong evidence suggests some barriers to equal opportunity in education and employment, and these, together with increased social isolation, are highly likely to exert a strong influence on financial situation and, therefore, on quality of life. All persons with skeletal dysplasia are physically impaired by virtue of the dysplasia. Only those with severe physical abnormalities are hampered in obtaining education and employment.
    • A substantial gap is observed in knowledge of the medical and social experiences of adults with skeletal dysplasias.
    • The relevance of the disability label is an important issue to many people with disabling conditions. It may be necessary to "come out" as disabled in order to qualify for support such as Disability Living Allowance (DLA).
    • Only by adopting a more stringent methodological approach to future research will it be possible to provide the robust evidence-base needed to inform future health and social service provision, as well as offering material for education and training purposes.
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Patient Education

The birth of a child with a skeletal dysplasia is an emotionally difficult experience for parents. The term "dwarf" has especially negative connotations; thus, skeletal dysplasia is the preferred term for discussing these disorders. Up-to-date information and resources pertaining to skeletal dysplasia should be made available to families. The following resources may help parents meet other parents of children with skeletal dysplasia who can offer support and realistic appraisal of the implications:

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