Skeletal Dysplasia 

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Background

Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age. If short stature is proportional, the condition may be due to endocrine or metabolic disorders or chromosomal or nonskeletal dysplasia genetic defects.

In general, patients with disproportionately short stature have skeletal dysplasia (osteochondrodysplasia). Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. See the images below.

Infant with rhizomelic form of chondrodysplasia puInfant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine. Brother and sister with mesomelic dysplasia (homozBrother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). Infant with Beemer-type (left) and an infant with Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and slightly curved limbs with bilateral postaxial polydactyly (Beemer-type SRS), a large head, short nose, flat nasal bridge, central cleft of upper and lower lips, short neck, short chest, protuberant abdomen, abdomen, ambiguous genitalia, short limbs, and preaxial and postaxial polydactyly (Majewski-type SRS). Infant and 2 children with achondroplasia. Note reInfant and 2 children with achondroplasia. Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands. Radiographs demonstrate abnormal pelvis with small square iliac wings, horizontal acetabular roofs, and narrowing of the greater sciatic notch, an oval translucent area at the proximal ends of the femora, caudal narrowing of the interpedicular distances in the lumbar region, short pedicles, and lumbar lordosis. Infant with thanatophoric dysplasia. Note short-liInfant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance). Infant with atelosteogenesis. Note short-limbed dyInfant with atelosteogenesis. Note short-limbed dysplasia, relative macrocephaly, and short neck. Radiographs demonstrate boomeranglike triangular or oval form of the long bones (humeri), absent radii, markedly delayed ossification of phalanges, short femora, and absent fibulae. Child with Hurler syndrome (mucopolysaccharidosis Child with Hurler syndrome (mucopolysaccharidosis type IH). Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia, joint contractures, and claw hands. Radiographs demonstrate hook-shaped deformity (anterior wedging) of the L1 and L2 vertebrae; abnormally short, wide, and deformed tubular bones (bullet-shaped) of the hands; and narrow base of the second-to-fifth metacarpals. The distal articular surfaces of the ulna and radius are slanted toward each other. Two infants with perinatal lethal form of osteogenTwo infants with perinatal lethal form of osteogenesis imperfecta. Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. Radiographs show short, thick, ribbonlike long bones with multiple fractures and callus formation at all sites (ribs, long bones). Infant with Larsen syndrome. Note the flat face wiInfant with Larsen syndrome. Note the flat face with depressed nasal bridge, prominent forehead, hypertelorism, cleft palate, talipes equinovarus, and dislocations of elbows, hips, and knees. Radiograph demonstrates dislocation at the knee. Child with Robinow syndrome. Note moderate short sChild with Robinow syndrome. Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.
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Pathophysiology

  • Skeletal dysplasias differ in natural histories, prognoses, inheritance patterns, and etiopathogenetic mechanisms. During the 1950s and 1970s, many new bone dysplasias were identified based on clinical manifestations, radiographic findings, inheritance patterns, and morphology of the growth plate. In the 1980s, research focused on defining the natural history and variability of the disorders. In the 1990s, the focus shifted toward elucidating the responsible mutations and characterizing the pathogenetic mechanisms by which the mutations disrupt bone growth.
  • In 1997, the International Working Group on Bone Dysplasias proposed a newly revised "International Nomenclature and Classification of the Osteochondrodysplasias."[1] In the revised nomenclature, families of disorders were rearranged based on recent etiopathogenetic information concerning the gene and/or protein defect involved. Disorders for which the basic defect was well documented were regrouped into distinct families in which component disorders result from mutations of the identical gene. Several new groups of disorders were added, and other families were renamed. Despite this update, the basic defect remains unrecognized in many disorders. With increasing molecular discoveries, classification and nomenclature must be constantly updated. However, over the past decades, substantial advances have been made in understanding the underlying genetic abnormalities responsible for most skeletal dysplasias.[2]
  • Based on the underlying molecular genetic cause, the dysplasias can be broadly grouped by the function of the protein product of the causative gene.[3] This type of classification is clinically useful because many of the disorders caused by genes whose protein products have similar functions also share clinical characteristics.[4]
  • Until skeletal maturity, cartilage persists at the ends of bone in the growth plate, which is responsible for longitudinal bone growth. The cartilaginous template is eventually replaced by bone. Many of the genes mutated in skeletal dysplasias encode proteins that play critical roles in the growth plate. An understanding of the role in growth plate function gives important clues into the molecular pathology of the skeletal dysplasia and makes it easy to understand how a certain mutation causes a particular phenotype.[5] Examples of genes that play a role in growth plate chondrocytes and skeletal dysplasia include the following:
    • Resting zone of the growth plate: SOX9 gene mutation causes camptomelic dysplasia, which is characterized by short and curved bone and is associated with sex reversal in which the female external genitalia does not match the male genotype. A heterozygous mutation is sufficient to cause the disease making this a dominant mutation, despite earlier reports suggesting that camptomelic dysplasia is a recessive disorder.
    • Proliferation zone of the growth plate: FGFR3 gene mutation causes achondroplasia, hypochondroplasia, and thanatophoric dysplasia, despite the variability in severity.[6]
    • Hypertrophic zone of the growth plate: PTHR1 gene mutation causes metaphyseal dysplasia. Activating mutations of the receptor causes the Jansen form, whereas inactivating mutations causes the Blomstrand form.[7, 8, 9, 10]
    • Zone of terminal differentiation of the growth plate: RUNX2 gene mutation causes cleidocranial dysplasia.[11]
  • Mutations in type II collagen cause a large number of disorders classified as spondyloepiphyseal dysplasia (ie, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler syndrome, and achondrogenesis). Mutations in the smaller matrix components, such as type IX collagen and cartilage oligomeric protein, cause multiple epiphyseal dysplasia.
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Epidemiology

Frequency

United States

  • The overall incidence of skeletal dysplasias is approximately 1 case per 4000-5000 births. The true incidence may be twice as high because many skeletal dysplasias do not manifest until short stature, joint symptoms, or other complications arise during childhood.
  • Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries.
  • The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias.
  • Achondroplasia is the most common nonlethal skeletal dysplasia.

Mortality/Morbidity

  • Among infants with skeletal dysplasias detected at birth, approximately 13% are stillborn, and 44% die during the perinatal period.
  • The overall frequency of skeletal dysplasias in infants who die perinatally is 9.1 per 1000.

Race

  • No racial predilections are described.

Sex

  • Males are primarily affected in X-linked recessive disorders. X-linked dominant disorders may be lethal in males.
  • Otherwise, males and females are usually equally affected by skeletal dysplasias.

Age

  • Skeletal dysplasias are usually detected in the newborn period or during infancy.
  • Some disorders may not manifest until later in childhood.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

James Bowman, MD  Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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Infant with rhizomelic form of chondrodysplasia punctata (left). Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. Radiographs depict epiphyseal stipplings on the proximal humerus, both ends of the femora, and lower spine.
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome).
Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and slightly curved limbs with bilateral postaxial polydactyly (Beemer-type SRS), a large head, short nose, flat nasal bridge, central cleft of upper and lower lips, short neck, short chest, protuberant abdomen, abdomen, ambiguous genitalia, short limbs, and preaxial and postaxial polydactyly (Majewski-type SRS).
Infant and 2 children with achondroplasia. Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands. Radiographs demonstrate abnormal pelvis with small square iliac wings, horizontal acetabular roofs, and narrowing of the greater sciatic notch, an oval translucent area at the proximal ends of the femora, caudal narrowing of the interpedicular distances in the lumbar region, short pedicles, and lumbar lordosis.
Infant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance).
Infant with atelosteogenesis. Note short-limbed dysplasia, relative macrocephaly, and short neck. Radiographs demonstrate boomeranglike triangular or oval form of the long bones (humeri), absent radii, markedly delayed ossification of phalanges, short femora, and absent fibulae.
Child with Hurler syndrome (mucopolysaccharidosis type IH). Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia, joint contractures, and claw hands. Radiographs demonstrate hook-shaped deformity (anterior wedging) of the L1 and L2 vertebrae; abnormally short, wide, and deformed tubular bones (bullet-shaped) of the hands; and narrow base of the second-to-fifth metacarpals. The distal articular surfaces of the ulna and radius are slanted toward each other.
Two infants with perinatal lethal form of osteogenesis imperfecta. Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. Radiographs show short, thick, ribbonlike long bones with multiple fractures and callus formation at all sites (ribs, long bones).
Infant with Larsen syndrome. Note the flat face with depressed nasal bridge, prominent forehead, hypertelorism, cleft palate, talipes equinovarus, and dislocations of elbows, hips, and knees. Radiograph demonstrates dislocation at the knee.
Child with Robinow syndrome. Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.
 
 
 
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