Congenital Disease

• Disease occurs at birth or even before birth. The incidence is 2~5% in newborn.
• The percentage of congenital disease related to genetic or chromosome defects was 60~70%.
• The other 30% of etiology was unknown.
• Can be categorized into chromosome disorders, congenital anomalies (malformations), inherited metabolic disorders and rare diseases.
The Group at Risk of Congenital Disease
★ People who have positive family history or consanguineous marriages should be examined in premarital or prenatal period.

★ Newborns or infants who were found to have unexplained developmental delay or mental retardation should be evaluated as soon as possible.

Examination Process
Out-patient examination:

  1. Thorough assessment by genetics specialists.
  2. Blood exam, including chromosome analysis, specific biochemical analyses and molecular studies, etc..
  3. Image studies, including ultrasound, computed tomography and magnetic resonance examination, etc.
  4. Interdisciplinary team consultation: The arrangement will be planned in accordance with the patient’s condition for relevant sub-specialist consultations.
  5. Arrangements for necessary prenatal examinations, including high-resolution ultrasound examination, maternal serum screening, amniocentesis for special tests, etc.).

Common Congenital Diseases, Symptoms and Treatment

There are more than 10,000 kinds of congenital diseases, the description of the common ones is as follows:

Mucopolysaccharidosis (MPS)


No abnormalities at birth, but with the increasing accumulation of mucopolysaccharide, the patient will gradually present with short stature, large head, coarse face, corneal opacity, hirsutism, depressed nasal bridge, thick lips, large tongue, claw hands and joint deformation.


Type I, II and VI patients can be treated with special enzyme; patients with type I and VI MPS can also be treated by bone marrow transplantation.

Down syndrome


In addition to the characteristic appearance and psychomotor retardation, the disease is also often combined with congenital heart disease or other abnormalities.


Early and aggressive care can reduce the complications effectively and improve the quality of life.



If not treated early, the patient will present with yellowish-brown hair, pale dry skin, smelly urine, mental retardation, serious convulsions, and growth retardation.


If early diagnosis and treatment were provided during the neonatal period, the outcome is very good and the IQ can achieve normal range.

Osteogenesis imperfecta (commonly known as brittle bone disease)


Brittle bones with repetitive fractures, blue sclera, dentinogenesis imperfecta (dental enamel anomaly), pointed chin, joint deformity, short stature and other symptoms.


Prevention of fractures with supportive care, assisting the child’s daily activity with special device, and to improve bone density with bisphosphonate therapy.



Also known as dwarfism; the patient has short limbs, abnormal proportion of limbs and trunk, frontal bossing, depressed nasal bridge, hydrocephalus, lordosis and scoliosis, bow legs, flatfoot, etc.


Supportive treatment, surgery for correcting short stature, trunk and limb deformities, or hydrocephalus.

Severe thalassemia (Thalassemia major)


An inherited anemic disease presented with prominent frontal bone, high cheekbones, protruding maxillary bone, and short stature.


Treatment depends on the subtypes and clinical severity. Regular blood transfusions, iron chelating agent therapy , and/or bone marrow transplantation are the most common medical treatments.

Hyperammonemia (Urea cycle disorders)


No obvious abnormalities at birth. After feeding, there will be vomiting, feeding difficulty, poor sucking, shortness of breath, easy fatigue, convulsions and a gradual deterioration of consciousness to comatose status.


Combined therapy with protein restriction and special drugs. Patients with severe clinical presentation must be treated with ammonia depletion agents and renal dialysis.

Prader-Willi Syndrome


In neonatal period, it appears with weak cry, poor sucking, hypotonia and hypoplasia of external genitalia. Some babies need long-term use of nasogastric tube due to feeding difficulties. During 1~2 year old period, the affected children would suddenly improve in appetite with rapid weight gain. Short stature and mental retardation are also commonly observed.


To avoid complications caused by obesity, diet control should start from an early age. Early growth hormone treatment and physiotherapy would improve growth condition and muscle tone. If there are behavioral and emotional problems, psychological and behavioral therapy must be arranged.

Mackay Memorial Hospital 's Special Team for Congenital Disease

★ Physicians

★ Counselors

★ Nurses

★ Technicians

★ Nutritionists

★ Psychiatrists

★ Psychotherapists

★ Physiotherapists

★ Social workers