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

By

Simeon A. Boyadjiev Boyd

, MD, University of California, Davis

Last full review/revision May 2020| Content last modified May 2020
Click here for the Professional Version

Birth defects may be classified as

  • Deformities

  • Malformations

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. (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles.) The sutures... read more Craniosynostosis ). Deformities are present in about 2% of births. Some deformities improve without treatment within a few days, but others need to be treated.

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 The most common birth defects of the skull and face are cleft lip and cleft palate, affecting about 2 of every 1,000 babies. Cleft lip is a separation of the upper lip, usually just below the... read more Cleft Lip and Cleft Palate . Other defects may involve the ears Ear Defects Ears can be missing, deformed, or incompletely developed at birth. (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles.) Birth defects of the ear include the following... read more Ear Defects , eyes Eye Defects Eyes can be missing, deformed, or incompletely developed at birth. Birth defects of the eye include the following: Hypertelorism: Widely spaced eyes, can occur in several congenital syndromes... read more Eye Defects , and jaw Jaw Defects The jaw can be missing, deformed, or incompletely developed at birth. Birth defects of the jaw include Micrognathia Agnathia Maxillary hypoplasia read more Jaw Defects . 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 Microcephaly (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. (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles.) The sutures... read more Craniosynostosis (the bands of tissue that connect the bones of the skull close too early).

Limb defects Missing or Incompletely Formed Limbs Limbs can be missing, deformed, or incompletely developed at birth. Limbs may form abnormally. For example, bones in the hand and forearm may be missing because of a genetic defect (see Chromosome... read more Missing or Incompletely Formed Limbs 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. Limbs may form abnormally. For example, bones in the hand and forearm may be missing because of a genetic defect (see Chromosome... read more Missing or Incompletely Formed Limbs . 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. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more Clubfoot and Other Foot Defects (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. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more Metatarsus adductus , metatarsus varus Metatarsus varus Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more Metatarsus varus , talipes calcaneovalgus Talipes calcaneovalgus Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more Talipes calcaneovalgus , 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. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more Pes planus (flat feet) .

Muscle defects Muscle Defects Babies can be born missing individual muscles or groups of muscles, or muscles can be incompletely developed. Birth defects of the muscles can occur alone or as part of a syndrome. The pectoralis... read more Muscle Defects 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 Scoliosis , 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. The child may need to wear a brace or body jacket for up to 18 hours a day. Surgery may be needed.

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