Congenital malformations and deformations of the musculoskeletal system

Congenital deformities of feet

  Talipes equinovarus (Q66.0)

Combination of forefoot and hindfoot in equinus (plantar flexed) and in varus (rotated toward the midline). In other words, the foot points downward and inward and is rotated outward axially. Other anomalies of the foot and ankle include talipes calcaneovalgus (in which the ankle joint is dorsiflexed and the forefoot deviated outwards) and talipes calcaneovarus (in which the ankle joint is dorsiflexed and the forefoot deviated inwards). [1]

Talipes equinovarus Talipes equinovarus Talipes equinovarus

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Reduction defects of upper limb

  Congenital complete absence of upper limb(s); amelia of upper limb (Q71.0)

Complete absence of one or both upper limbs. [2]

Amelia of upper limb Amelia of upper limb Amelia of upper limb
  Congenital absence of upper arm and forearm with hand present; phocomelia of upper limb (Q71.1)

Complete or partial absence of the upper arm and forearm but with the hand present. [3]

Phocomelia of upper limb Phocomelia of upper limb
  Congenital absence of both forearm and hand (Q71.2)

Complete or partial absence of both the forearm and hand. [2]

Congenital absence of both forearm and hand Congenital absence of both forearm and hand Congenital absence of both forearm and hand Congenital absence of both forearm and hand
  Congenital absence of hand and finger(s) (Q71.3)

Complete or partial absence of the hand and finger(s). [4]

Congenital absence of hand and fingers Congenital absence of hand and fingers
  Congenital absence of finger(s) (remainder of hand intact) (Q71.30)

Complete or partial absence of fingers, with the remainder of the hand intact. [5, 6]

Congenital absence of fingers - remainder of hand intact Congenital absence of fingers - remainder of hand intact Congenital absence of fingers - remainder of hand intact Congenital absence of fingers - remainder of hand intact
  Absence or hypoplasia of thumb (other digits intact) (Q71.31)

Complete or partial absence or hypoplasia of the thumb. [2]

Absence or hypoplasia of thumb - other digits intact
  Longitudinal reduction defect of radius: clubhand (congenital), radial clubhand, absence of radius (Q71.4)

Complete or partial radial aplasia/hypoplasia. Usually accompanied by complete or partial absence or hypoplasia of the thumb. [2, 7]

Longitudinal reduction defect of radius Longitudinal reduction defect of radius Longitudinal reduction defect of radius Longitudinal reduction defect of radius Longitudinal reduction defect of radius
  Longitudinal reduction defect of ulna (Q71.5)

Complete or partial absence of the ulna. [8]

Longitudinal reduction defect of ulna
  Split hand (congenital cleft hand) (Q71.6)

Complete or partial absence of central fingers and metacarpals. The terms lobster claw and ectrodactyly, used by some, should be discouraged. [2]

Split hand (congenital cleft hand) Split hand (congenital cleft hand) Split hand (congenital cleft hand)

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Reduction defects of lower limb

  Congenital complete absence of lower limb(s); amelia of lower limb (Q72.0)

Complete absence of one or both lower limb(s). [2]

Amelia of lower limb Amelia of lower limb
  Congenital absence of thigh and lower leg with foot present; phocomelia of lower limb (Q72.1)

Complete or partial absence of the thigh and lower leg but with the foot present. [4]

Phocomelia of lower limb Phocomelia of lower limb
  Congenital absence of both lower leg and foot (Q72.2)

Complete or partial absence of both the lower leg and foot. [2]

Congenital absence of both lower leg and foot Congenital absence of both lower leg and foot
  Congenital absence of foot and toe(s) (Q72.3)

Complete or partial absence of the foot and toe(s). [4]

Congenital absence of foot and toes Congenital absence of foot and toes
  Congenital absence or hypoplasia of toe(s) with remainder of foot intact (Q72.30)

Complete absence or hypoplasia of toe(s) with the remainder of the foot intact. [5]

Congenital absence or hypoplasia of toes with remainder of foot intact Congenital absence or hypoplasia of toes with remainder of foot intact Congenital absence or hypoplasia of toes with remainder of foot intact Congenital absence or hypoplasia of toes with remainder of foot intact
  Absence or hypoplasia of first toe with other digits present (Q72.31)

Complete absence or hypoplasia of the first (great) toe with other digits present. [5]

Absence or hypoplasia of first toe with other digits present
  Longitudinal reduction defect of femur (Q72.4)

Complete or partial absence of the femur. [3]

Longitudinal reduction defect of femur
  Longitudinal reduction defect of tibia (Q72.5)

Complete or partial absence of the tibia. Usually accompanied by complete or partial absence or hypoplasia of the first (great) toe. [2]

Longitudinal reduction defect of tibia Longitudinal reduction defect of tibia
  Longitudinal reduction defect of fibula; fibular aplasia/hypoplasia (Q72.6)

Complete or partial absence of the fibula. [9]

Fibular Aplasia Hypoplasia
  Split foot (congenital cleft foot) (Q72.7)

Complete or partial absence of central toes and metatarsals. The term ectrodactyly, used by some, should be discouraged. [2]

Split foot - congenital cleft foot Split foot - congenital cleft foot Split foot - congenital cleft foot

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Congenital malformations of the musculoskeletal system, not elsewhere classified

  Exomphalos/omphalocele (Q79.2)

Congenital anomaly of the anterior abdominal wall, in which the abdominal contents (gut, but at times also other abdominal organs) are herniated in the midline through an enlarged umbilical ring. The umbilical cord is inserted in the distal part of the membrane covering the anomaly. The herniated organs are covered by a membrane consisting of the peritoneum and amnion (but this membrane can be ruptured). [4, 2]

Exomphalos - omphalocele Exomphalos - omphalocele Exomphalos - omphalocele Exomphalos - omphalocele
  Gastroschisis (Q79.3)

Gastroschisis is a congenital anomaly of the anterior abdominal wall, accompanied by herniation of the gut and occasionally other abdominal organs. The opening in the abdominal wall is lateral to the umbilicus, and the herniated organs lack a protective membrane. Note that the extruded abdominal contents can be matted and covered by a thick fibrous material, but this membrane does not resemble skin. [2]

Gastroschisis Gastroschisis
  1. Photograph and X-ray source: courtesy of Idalina Montes, MD and Rafael Longo, MD, FACS, Puerto Rico.
  2. Photographs source: courtesy of CDC-Beijing Medical University collaborative project.
  3. Photograph source: courtesy of Jaime Frías, MD, USA.
  4. Photograph source: courtesy of Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC).
  5. Photograph source: courtesy of John Wiley and Sons ©2009. Biesecker LG et al. Am. J. Med. Genet. A. 2009;149A:93–127.
  6. Photographs and X-ray source: courtesy of Dr E Gene Deune, MD; Associate Professor, Johns Hopkins Department of Orthopedic Surgery, Division of Hand Surgery, Baltimore, MD, USA.
  7. X-ray source: courtesy of John Wiley and Sons ©2011. Umaña LA et al. Am. J. Med. Genet. A. 2011;155A:3071–4.
  8. X-ray source: courtesy of John Wiley and Sons ©1997. Kumar D et al. Am. J. Med. Genet. A. 1997;70A:107–13.
  9. X-ray source: image reprinted with permission from Holmstrom MC et al. Medscape 2013 (http://emedicine.medscape.com/article/1251558-overview).

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