Introduction to Birth Defects of the Face, Bones, Joints, and Muscles

Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth."

Birth defects of the face and limbs are fairly common. They may involve only a specific body part, such as the mouth (cleft lip Cleft Lip and Cleft Palate A cleft is an opening that can form in the lip (cleft lip), roof of the mouth (cleft palate), or both if the tissue does not join together completely during pregnancy. Cleft lip and cleft palate... read more or cleft palate Cleft Lip and Cleft Palate A cleft is an opening that can form in the lip (cleft lip), roof of the mouth (cleft palate), or both if the tissue does not join together completely during pregnancy. Cleft lip and cleft palate... read more ) or foot (clubfoot Clubfoot and Other Foot Defects Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more ). Or they may be part of a genetic syndrome of many abnormalities, such as Treacher Collins syndrome, in which birth defects affect not only the face but also multiple other body parts.

Birth defects may be classified as

A deformity is a change in the shape of a body part. A deformity is caused by unusual pressure on the baby in the womb (for example, some forms of clubfoot) or after the baby is born (for example, some deformities of the skull Craniosynostosis Craniosynostosis is a birth defect in which one or more of the skull's sutures close too early. Birth defects, also called congenital anomalies, are physical abnormalities that occur before... read more ). Deformities are present in about 2% of births. Some deformities improve without treatment within a few days, but others need to be treated.

A malformation is an error in the baby's development that occurs in the womb. Causes of malformations include chromosome abnormalities Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more , single-gene defects Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more , and environmental factors (such as teratogens Exposures During Pregnancy Some risk factors are present before women become pregnant. These risk factors include Certain physical characteristics, such as age and weight Problems in a previous pregnancy, including the... read more , which are substances known to cause birth defects). A malformation can also be caused by a combination of genetic and environmental factors. In some cases, the cause is unknown. About 3 to 5% of babies are born with a malformation.

Arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita refers to a group of rare disorders that develop in the womb and cause many joints to become "frozen" in position. Birth defects, also called congenital anomalies... read more refers to a group of rare congenital disorders that result from limited joint movement in the womb. The limited movement causes many joints to become curved and "frozen" in position.

Craniofacial defects are caused by the abnormal growth or development of the head and/or facial bones while the baby is growing inside the mother. The most common defects of the face are cleft lip and cleft palate Cleft Lip and Cleft Palate A cleft is an opening that can form in the lip (cleft lip), roof of the mouth (cleft palate), or both if the tissue does not join together completely during pregnancy. Cleft lip and cleft palate... read more . Other defects may involve the ears Ear Defects Ears can be missing, deformed, or incompletely developed at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital"... read more , eyes Eye Defects Eyes can be missing, deformed, or incompletely developed at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital"... read more , and jaw Jaw Defects The jaw can be missing, deformed, or incompletely developed at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital"... read more . Some craniofacial defects that affect the skull include macrocephaly Macrocephaly Macrocephaly is the technical term for a large head. Macrocephaly can be normal or caused by genetic disorders or other disorders. Diagnosis is made before birth through routine ultrasound tests... read more (the skull is too large), microcephaly Microcephaly Microcephaly is an abnormally small head. Often the head is small because the brain is small and abnormally developed. Microcephaly can be caused by many disorders including genetic abnormalities... read more (the skull is too small), and craniosynostosis Craniosynostosis Craniosynostosis is a birth defect in which one or more of the skull's sutures close too early. Birth defects, also called congenital anomalies, are physical abnormalities that occur before... read more (the junctions between the bones of the skull close too early).

Hip and joint defects include developmental dysplasia of the hip Developmental Dysplasia of the Hip Developmental dysplasia of the hip is a birth defect in which the bones in the hip are incorrectly developed. Birth defects, also called congenital anomalies, are physical abnormalities that... read more and knee dislocation Dislocated Knee The knee may be out of place (dislocated) at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present... read more .

Limb defects Missing or Incompletely Formed Limbs Limbs can be missing, deformed, or incompletely developed at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital"... read more are numerous. Sometimes a limb is missing or does not form completely Missing or Incompletely Formed Limbs Limbs can be missing, deformed, or incompletely developed at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital"... read more . Part or all of the hand or foot may be missing. For example, the person may have too few or too many fingers or toes. Clubfoot Clubfoot and Other Foot Defects Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more (talipes equinovarus) is a defect in which the foot and ankle are twisted out of shape or position. Other foot defects include metatarsus adductus Metatarsus adductus Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more , metatarsus varus Metatarsus varus Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more , talipes calcaneovalgus Talipes calcaneovalgus Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more , and pes planus Pes planus (flat feet) Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more .

In bowlegs, Bowlegs Bowlegs and knock-knees are the two major types of knee deformities. They are birth defects. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby... read more the knees appear to be turned outward. In knock-knees, Knock-knees Bowlegs and knock-knees are the two major types of knee deformities. They are birth defects. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby... read more the knees appear to be turned inward. Other defects that affect the legs include twisting of the top part of the thighbone (femoral torsion Femoral Torsion The thighbone (femur) may be twisted at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth... read more ) and twisting of the shinbone (tibial torsion Tibial Torsion The shinbone (tibia) may be twisted at birth. Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth... read more ).

Muscle defects Muscle Defects Babies can be born missing individual muscles or groups of muscles, or muscles can be incompletely developed. Birth defects, also called congenital anomalies, are physical abnormalities that... read more may be present at birth. Babies can be born missing individual muscles or groups of muscles, or muscles can be incompletely developed. Defects in muscles can occur alone or as part of a syndrome.

Neck and back abnormalities can be caused by injuries to soft tissues or bones. Two of the most common abnormalities are

Spinal defects include scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. Scoliosis can be present at birth or can develop during adolescence. Mild forms may cause only mild discomfort, but more severe forms can cause... read more , which is rarely apparent at birth, and defects of a specific vertebra, which are likely to be identified at birth. A number of different genetic syndromes include scoliosis as one of their abnormalities. As children grow, the spinal curve caused by a defect of the spine can progress quickly. Doctors monitor the spine closely.