Head

• Skull

  • Anencephaly
  • Cloverleaf skull

• Face

  • Eye

    • Anophtalmos and Microphtalmos
    • Congenital Cataract
    • Aniridia
    • Corneal opacity
    • Cryptophthalmia
    • Congenital Glaucoma or Buphthalmia
    • Epibulbar dermoids
    • INTER-OCULAR DISTANCES
    • Ocular Hypertelorism
    • Hipotelorismo ocular

  • Eyelid

    • Eyelid anomalies
    • Palpebral ptosis
  • Facial asymmetry WITHOUT defects
  • Preauricular Fistula (or dimple)
  • Micrognathia and Retrognathia

• Ear

  • Ear anomalies
  • Preauricular tags
  • Ear malformation - Microtia/Anotia
  • Earlobe cleft - Marked lobe
  • Macrotia
  • Ear Deformities
  • Abnormalities of the Implantation of the Ears - Agnathia Otocephaly

• Mouth

  • Macrostomia
  • Cleft lip with cleft palate
  • Ankyloglossia
  • Cleft lip without cleft palate
  • Pit of the lower lip
  • Gengivolabial Bands
  • Epulis
  • Congenital Tooth
  • Ranula
  • Cleft Lip and/or Cleft Palate
  • Cleft lip with or without cleft palate
  • Macroglossia
  • Cyst or lingual hamartoma
  • Cleft palate without cleft lip

• Nose

  • Arrhinia
  • Nasal Anomaly, Other
  • Choanal atresia
  • Alae Nasae Cleft

• Neck

  • Webbed neck - Pterygium of joints

• Craniorrachischisis
• Iniencephaly
• Encephalocele
• Microcephaly
• Hydrocephalus
• Cranial Deformities
• Congenital alopecia
• Aplasia cutis vertex - White Forelock
• Malar hypoplasia

Lower limbs

• Anus

  • Anorectal atresia/stenosis
  • Exstrophy of Cloaca
  • Persistent cloaca

• Knee

  • Knee dislocation

• Foot

  • Congenital Foot Deformities Talipes / Clubfoott
  • Talipes Equinovarus
  • Talipes Talovalgus

• Toes

  • Foot preaxial polydactyly
  • Foot postaxial polydactyly and Other foot polydactylies
  • Toe syndactyly

• Swelling of feet
• Sirenomelia
• Limb reduction defects: Transverse Intercalar: Femoral Hypoplasia
• Limb reduction defects - Combined Types

General

• Skin

  • Hemangioma
  • Skin Tags
  • Pigmented nevus
  • Politelia
  • Hypertrichosis

• Other specified congenital malformations of face and neck
• Constrictive Bands - Pectoral Deficiency
• Arthrogryposis
• Hydrops
• Coupled or conjoined twins
• Down syndrome
• Acardiac-acephalus
• Short Limbs and Corporal Disproportion
• Collodion
• Arhinencephaly/holoprosencephaly
• Situs Inversus

Dorsal region

• Pilonidal defects

Vertebral column

• Spina bifida
• Scoliosis by bone malformation

Thorax

• Congenital Heart Disease
• Transposition of great vessels
• Patent Foramen Ovale
• Tetralogy of Fallot
• Hypoplastic left heart syndrome
• Ectopia Cordis
• Patent ductus arteriosus
• Coarctation of the aorta
• Esophageal atresia/stenosis
• Pectus excavatum
• Diaphragmatic hernia

Abdomen

• Single umbilical artery
• Kidney Agenesis
• Kidney hypolasia
• Bladder exstrophy
• Omphalocele
• Gastroschisis
• Prune belly sequence
• Celossomia (Estrofossomia)
• Umbilical hernia
• Inguinal hernia
• Other anomalies of the umbilical cord
• Small intestine atresia/stenosis
• Polycystic kidney disease
• Ureteropelvic dilatation
• Horseshoe kidneys
• Abdominal wall defects
• Fetal ascites

Hip

• Hip dislocation
• Rigid Hip
• Hip dislocation

Genitals

• Hydrocele
• Imperforate hymen
• Absent penis
• Hypospadias
• Ambiguous Genitalia - Indeterminate sex
• Phimosis
• Cryptorchidism
• Malformations of the uterus and cervix
• Peno-scrotal Transposition and Shawl scrotum
• Epispadias
• OEIS complex (*) [Q87.8] [Not mentioned in ICD10]

Limbs

• Limb reduction defects
• Limb reduction defects - Terminal Transverse - Amelia
• Limb reduction defects - Terminal Transverse Rizo, or Mesomelia
• Limb reduction defects - Transverse Intercalar - Phocomelia
• Limb reduction defects - Transverse Terminal, Telomelico
• Limb reduction defects - Longitudinal Pre-axial
• Limb reduction defects - Longitudinal Post-axial
• Limb reduction defects - Longitudinal Axial

Technology in the quest for neonatal defect

• Appropriate technology in the quest for neonatal birth defects