Congenital Disease

Diseases that have occurred at birth, or during prenatal period, occur in newborns at a rate of 2 to 5%. The occurrence of congenital diseases is mostly related to the loss of genes or chromosomes and accounting for about 60% to 70% of all causes. The remaining one-third is unknown.

It is mainly divided into chromosomal diseases, congenital abnormalities (abnormalities), congenital metabolic abnormalities and rare diseases.

Groups that are at risk

  • Those with family history or close relatives should be tested before marriage or prenatally.
  • Newborns, infants, and young children undergo routine examinations by physicians, and if they have unexplained abnormalities or retarded development of intelligence. They should seek medical treatment as early as possible for detailed evaluation and diagnosis.

Inspection process

Outpatient examination:

  • Consultation with genetic specialists.
  • Blood drawing (including chromosome examination, special biochemical analysis and genetic examination, etc).
  • Ultrasound, computer tomography, and nuclear magnetic resonance.
  • Interdisciplinary team consultation: According to the needs of the disease, arrange relevant specialist consultations.
  • Arrange necessary prenatal inspections (high-resolution ultrasound, amniotic fluid analysis, etc).

Types of common congenital diseases

Types of common congenital diseases:

( Commonly known as sticky baby or jelly beans )


There are no abnormalities at birth, but as mucopolysaccharides gradually accumulate, symptoms such as short stature and long height, enlarged skull, thick eyebrows, cloudy cornea, hairy, collapsed nose bridge, thick lips, enlarged tongue, joint deformation, etc.


Patients with Type I, Type II and Type VI have significant therapeutic effects when given enzyme injections; patients with Type I and Type 6 can also consider bone marrow transplantation.


Down's disease


In addition to typical appearance changes and retarded intellectual development, congenital heart disease or other abnormalities are also often combined.


Early and active care can effectively control various complications and improve quality of life and longevity.



The hair is yellowish brown, the skin is pale and dry, the urine has an odor and mental retardation. It may also have severe convulsions and stunted growth.


If the diagnosis and timely special treatment are obtained in the neonatal period, the effect is very good, and the IQ may reach the standard of normal people.

Congenital osteogenesis imperfecta
(commonly known as glass doll or enamel doll)


It is a special genetic disease with fragile bones and repetitive fractures, often with symptoms such as blue sclera, abnormal tooth enamel, pointed jaw, deformed bones and joints, and short body.


Supportive therapy is used to prevent fractures, assistive devices are used to assist children’s daily activities, and drug treatment is used to strengthen bone density.

Cartilage dysplasia
(commonly known as little people)


It is also called dwarfism, with short limbs, abnormal limbs and trunk ratio, collapse of forehead and nasal bridge, and may be combined with hydrocephalus, large spine curvature, O-shaped legs, flat feet, etc.


Supportive therapies, as well as surgery in the case of insufficient height, deformity of the trunk and legs, or brain lesions.

Severe thalassemia


It is a hereditary anemia that shows prominent frontal bones, high zygomatic bones on both sides, and maxillary outcrops that cause toothyness and short stature.


The clinical symptoms are divided into four levels of severe, moderate, mild and asymptomatic, so there are different treatments and effects. Regular blood transfusion and iron removal treatment, or bone marrow transplantation.



There is no obvious abnormality at birth. After starting to feed, you will have vomiting, difficulty feeding, poor sucking power, shortness of breath, burnout, consciousness gradually deteriorated to coma, and convulsions often occur.


Reliance on food control and medication for treatment. In severe cases, ammonia injection and renal dialysis must be injected.

Prader-Willy Syndrome (commonly known as Fatty Willy)


In the neonatal period, there are weak crying, poor sucking power, poor limb mobility, and poor genitalia. Some of them need to feed with a nasogastric tube for a long time due to feeding difficulties. At the age of 1-2 years, the sick child’s appetite suddenly improved, his appetite became abnormally good, and his weight increased rapidly. However, in addition to the body’s constant weight gain, it did not grow tall and his intelligence development was slow.


By controlling diet from an early age, avoiding complications caused by obesity, and early giving growth hormone treatment to improve physical growth, or rehabilitation treatment for insufficient muscle tone, if you have abnormal behavior and emotional problems, you must accept psychological treatment and behavior treatment.

MacKay congenital disease medical team

● Specialist physician consultant ● Nursing staff ● Technician ● Nutritionist ● Psychologist ● Psychotherapist ● Professional rehabilitation therapist ● Social worker

Attending physician of Pediatric Genetics: Shuan-Pei Lin


Senior Attending Physician, Pediatric Genetics Department, MacKay Children’s Hospital


  • Kaohsiung Medical College
  • Researcher, Department of Human Genetics, Yale University (1989-1991)


    • Pediatrics
    • Senior Attending Physician, Department of Pediatrics, MacKay Memorial Hospital
    • Director of MacKay Memorial Hospital Rare Disease Center
    • Senior Attending Physician, Pediatric Genetics, MacKay Memorial Hospital
    • Leader, Biochemical Genetics Group, Medical Research Unit
    • Chairman, Medical Genetics / Metabolology Subcommittee, Taiwan Pediatric Medical Association
    • Adjunct Professor of MacKay Medical College
    • Adjunct Professor, Department of Infant and Child Care, National Taipei University of Nursing and Health
    • Fellow of the American Human Genetics Society
    • Member of the Rare Diseases and Drugs Review Committee, Department of Health
    • Member of Taipei City Women’s Health Committee
    • Executive Director, Taiwan Human Genetics Society
    • Member of Education Committee of Taipei Medical Association
      Child Welfare Alliance Foundation Advisor
    • Medical Consultant, Taipei Wish Association
    • Medical Consultant, Albino Care Association, Glass Dolls Association, and Tuberous Sclerosis Association
    • Honorary Chairman of Taiwan Mucopolysaccharide Association
    • Managing Director, Rare Diseases Foundation
    • Director of the Republic of China Down Syndrome Foundation
    • Regional Leader, International Mucopolysaccharidosis IIIB Human Test Project
    • Head of Asia, International Mucopolysaccharidosis Type 4 Human Test Project (MOR)
    • Head of International Mucopolysaccharidosis Type 2 Natural Medical History Registration Project (HOS) Taiwan
    • Founder and core member of Asia Pacific Mucopolysaccharidosis Research Alliance (APMN)
    • Fellow of the American Human Genetics Society
    • Member of the Asian Society of Inborn Metabolic Diseases (ACIMD)
    • Consultant Asia, International Prader-Williams Syndrome (IPWSO)
    • Director of Pediatrics, Ma Tung Memorial Hospital Taitung Branch
    • Member of Taipei City Government Early Care Promotion Committee
    • Director and Chairman of the International Prader-Willie Syndrome Organization (IPWSO)
    • Clinical Researcher, Department of Genetics, Yale University

Project or expertise

  • General Pediatrics
  • Congenital disease
  • Genetic counseling


5 ~ 10 SCI papers published every year


Rare Disease Team Receives SNQ National Quality Mark Certification
Department of Health Rare Disease Contribution Award
Taipei Medical Association Xinglin Award, etc.
[Newspapers and magazines]
Rare disease-related interview reports scattered in major media
Rare Disease Issue Named in Vietnam’s National Journal of Rare Diseases
Author of four Chinese and English monograph chapters; author or editor of five popular pediatric books.
[Medical Journal Editor and Reviewer]
OJRD, Molecular Genetics and Metabolism, Am J Med Genet, etc.

Director of Child Genetics: Hsiang-Yu Lin


  • Director of Pediatric Genetics, MacKay Memorial Hospital
  • Assistant Professor, Department of Medicine, Ma Wei Medical College
  • Assistant Professor at MacKay Medical College
  • Reviewer of the Physician-level Expert Review Panel of the Rare Diseases and Drugs Review Committee, National Health Service, Department of Health, Executive Yuan
  • Director of the 19th Medical Genetics / Metabolism Committee of the Taiwan Pediatric Medical Association


  • PhD, Institute of Clinical Medicine, National Yangming University
  • Bachelor of Medicine, Taipei Medical University
  • Training at Ohio State University Medical Center


  • [Special honor]
    * 2001, 2002 “Excellent Award for Residents’ Medical Record Writing”, Department of Pediatrics, Maji Memorial Hospital
    * “Excellent Paper Award” of Pediatrics Department of Ma Ma Memorial Hospital, 2005, 2006 and 2007
    * 2007 “Mead Johnson Travel Award” from Taiwan Pediatric Medical Association
    * 2008 Taiwan Taiwan Mucopolysaccharid Association “Zhou Ai Memorial Medical Care Award”
    * 2009 National Science Council “Research Talent Cultivation Plan” Award for “Subsidy for PhD Students to Study Abroad”
    * 2010 The 11th “Rare Diseases PhD Thesis Award Scholarship” PhD Student Group
    * 2011, 2012 National Yangming University Postgraduate Excellent Paper Publication Award
    * “The Young Investigator Award” at the 210th Academic Lecture of Taiwan Paediatric Association in 2012
    * 2012 Jionglin Chen Jionglin Pediatric Research Award Foundation “Outstanding Paper Award of Attending Physician of Pediatrics”
    * 2012 “Excellent Young Researcher Award” at the 212th Academic Lecture of Taiwan Paediatric Association
    * 2013 Novartis Medical Research Outstanding Thesis Award, Medical Research Department, Ma Ma Memorial Hospital
    * 2013 PGY Outstanding Teacher of the Ministry of Medical Education of Macao Memorial Hospital
    * 2015 Siyuan Institute of Internal Medicine and Medical Research and Development Foundation “First Prize in the Best Paper Award of the Department of Internal Medicine of the Year 103”
    * 2005-2016 Ma Yi Memorial Hospital physician professional academic papers publication award
    * 2013-2016 Host of “Special Research Project” of Ministry of Science and Technology
  • [Specialist qualification]
    * Appointed Assistant Professor of the Ministry of Education (Assistant Word No. 036339)
    * Republic of China Pediatric Specialist (Pediatric Specialist No. 003064)
    * Sub-specialist in Genetics and Metabolism of Pediatrics, Republic of China (Taier’s Legacy Medical Specialist No. 045)
    * Physician Specialist in Children’s Emergency Medicine of the Republic of China (Taier Emergency Specialist No. 00546)
    * Passed the advanced examination of public physicians of the Republic of China [(87) 公 高 字 1169]
    * “Pediatric Ultrasound Professional Physician” of the Medical Ultrasound Society of the Republic of China
    * Editorial Board member of “Pediatric Frontiers” Magazine of Taiwan Pediatric Medical Association
    * Research Physician of Pediatric Genetics and Metabolism, Attending Physician of Children’s Emergency and Intensive Care Department
    * Resident of Ma Pei Memorial Hospital, Chief Physician of Pediatrics,
    * Resident of Pediatrics, Taipei Zhongxiao Hospital
  • [Medical Journal Editor and Reviewer]
    * “Circulation”:Reviewer in 2011.
    * “Molecular Genetics and Metabolism”:Reviewer in 2013.
    * “The Open Access Journal of Science and Technology”:Editor and Reviewer since 2014.
    * “Pediatrics and Neonatology”:2007-2016 Reviewer.
    * “Quality of Life Research”:2015 Reviewer.
    * “Clinical Genetics”:2016 Reviewer.

Project or expertise

  • General Pediatrics
  • Congenital genetic and metabolic diseases
  • Genetic counseling
  • Rare disease
  • Pediatric emergency
  • Medical Research Paper Writing
  • Apparent genetics

Attending physician of Pediatric Genetics: Lin Dar-Shong


Senior Attending Physician, Pediatric Genetics Department, Maji Children’s Hospital


  • PhD in Biotechnology, Taipei University of Science and Technology
  • Collaborative Research Scholar in Gene Therapy, University of Washington Medical School
  • Collaborative Research Scholar, Children’s Home, University of Philadelphia


  • Department of Genetics, Pediatric Society of Taiwan
  • Fellow of the American Society for Cell and Gene Therapy
  • Fellow of the American Academy of Neuroscience Research
  • Director of Pediatric Genetics, MacKay Memorial Hospital
  • Senior Attending Physician, Pediatrics, MacKay Memorial Hospital
  • Chair of Mitochondrial Medicine Research, Department of Medical Research, MacKay Memorial Hospital
  • Reviewer, Senior Expert Review Group, Rare Disease and Drug Review
  • Committee, National Health Service, Department of Health, Executive Yuan
  • Assistant Professor, Department of Medicine, MacKay Medical College
    Part-time Lecturer at MacKay Medical College
  • Host of the Research Program of the Ministry of Science and Technology
  • Chief MacKay Pediatrician
  • MacKay Pediatric Resident
  • Active Member of the American Society for Cell and Gene Therapy
  • Active member of the American Academy of Neuroscience
  • Active member of the American Human Genetics Society
  • Active member of the Taiwan Human Genetics Society
  • Collaborative Research Scholar, Department of Gene Therapy, University of Washington
  • Collaborative Research Scholar at Children’s Hospital of Pennsylvania

Project or expertise

  • General Pediatrics
  • Congenital disease
  • Neurodegenerative diseases
  • Autism
  • Slow development
  • Genetic diagnosis of rare diseases
  • Gene therapy, eugenics, genetic counseling

Other honors

Premature Baby Foundation Photo Contest Silver Medal



Dr. Yuanyuan Shen establishes chromosome laboratory


Dr. Lin Shuan-Pei went to the National Taiwan University Hospital to study clinical genetics for four months. In 1986, Dr. Lin Shuan-Pei became the first pediatric genetics physician at MacKay Memorial Hospital。

July 1989 to June 1991

Dr. Lin Shuan-Pei went to Yale University Medical School to study clinical genetics.

July 1992

Dr. Wei Qibis, the first clinical researcher in Pediatric Genetics (Fellow), was trained for one year. Dr. Wei is currently a well-known practitioner in Luzhou.


Dr. Lin Shuan-Pei established the Biochemical Genetics Laboratory. The laboratory is located in the Medical Research Building of Tamsui MacKay Hospital. It is a research unit cooperating with the Department of Pediatric Genetics and Medical Research.


Dr. Lin Shuan-Pei and the social service department Tsai Lili’s social workers worked together to promote the establishment of the Taiwan Mucopolysaccharid Association. A press conference was held in the second lecture hall of the 9th floor of the MacKay Memorial Hospital. The association was formally established.

July 1997

The hospital formally agreed and announced the independent sub-specialty of the pediatric sub-specialty. At the beginning, it was divided into 10 sub-specialties. The Pediatric Genetics Department was established in Yu Wei. Dr. Lin Dar-Shong, who was self-trained in the department, was promoted to the second attending physician in pediatric genetics.

After July 1998

Dr. Wang Qingxiang, Huang Qingxiang, Guo Mingdian, Yang Chen, Xu Jiaqi, Yan Ruilong, Huang Zhenghong, Lin Xiangyu, Zhang Jiaying, Lin Xinyi, and Li Zhenhao have received undergraduate studies or training for one to two years, among which Dr. Yang Chen is currently Attending physician of Pediatric Genetics, Beijing Medical Affiliated Hospital, Dr. Xu Jiaqi is the chief physician of Pediatric Genetics of Taichung Rong, Dr. Yan Ruilong is the attending physician of the Department of Genetics and Metabolism of the Taipei City United Hospital of Women and Children, and Dr. Huang Zhenghong was first promoted to be the chief of Pediatric Genetics of Cathay Hospital He was later transferred to be the chief physician of the Department of Genetics and Endocrinology, Pediatric Department of Taipei Rong General, while Dr. Lin Xiangyu and Zhang Jiaying were promoted to the Pediatric Genetics Department of Taipei General Hospital and Hsinchu Branch respectively. In the same period, he also received Dr. Huang Xinwen from Zhejiang Children’s Hospital, Dr. An Thuy Lan from Vietnam, and Dr. Hamizah Ismail from Malaysia for short-term exchanges and further studies. At this stage, Fellow in the department is Dr. Li Zhonglin.


Before Dr. Lin Shuan-Pei opened up his ethics and overcome all difficulties, he introduced for the first time the special drug Cerezyme, a case of Gaucher disease with severe illness and a brother and sister who both died of the same illness. Enzyme Replacement Therapy (ERT) has outstanding effects.


Dr. Lin Shuan-Pei assisted and facilitated the establishment of the Taiwan Rare Diseases Foundation; the Rare Diseases Foundation held a press conference in the first lecture hall on the ninth floor of Macao Hospital.

2000 to 2007

Dr. Lin Shuan-Pei cooperated with Professor Li Guizheng of the Life Science Institute of Normal University to conduct a molecular biology study on type 1, 2 and 3 mucopolysaccharidosis in Dr. Yu Shuo.

July 2002

The hospital officially announced that the pediatrics department was promoted to be the pediatrics department, and Dr. Lee Hung-Chang was the director of the ex officio department.。


Dr. Lin Shuan-Pei introduced special Aldurazyme drugs in the form of Compassionate Use for the first enzyme replacement treatment of mucopolysaccharidosis (type 1) in China。


Dr. Lin Shuan-Pei was recommended to Italy to attend a special meeting of the International Prader-Willi Syndrome Organization (IPWSO), speak on behalf of Taiwan, and was elected as a member of the International Council and a consultant for Asia in 2004. Concurrently serves as Vice-Chairman, and defeats a strong rival, the United Kingdom, to win the right to host the 2010 PWS International Academic Conference (held every three years) for Taiwan, and has won several honorary honours for his hard work on IPWSO affairs in Asia, 2009 Nian Lin succeeds the chairman of the board of directors of this international organization.


Dr. Lin Shuan-Pei accompanied the type 6 mucopolysaccharidosis patient to the Royal Manchester Children’s Hospital for evaluation twice, to win the opportunity to participate in the international human drug trial program, and eventually succeeded, and later promoted the type 6 Mugla polysaccharide treatment drug Naglazyme was introduced to Taiwan, and later received health insurance benefits, benefiting the only nine patients in Taiwan.


Dr. Lin Shuan-Pei was recognized by the Taipei Medical Association for his long-term hard work in the field of rare diseases, and was awarded the Xinglin Award. After returning to hospital, he was publicly praised by President Huang Junxiong.
Dr. Hsiang-Yu Lin has been awarded the “Excellent Paper Award” by residents of MacKay Memorial Hospital for three consecutive years since 2005 (2005, 2006 and 2007)


Dr. Lin Shuan-Pei was commissioned by the Taiwan Human Genetics Society to implement the International Hunter Outcome Survey (HOS) for type 2 mucopolysaccharidosis, and was invited to represent the Asia-Pacific region of the HOS project. Award “Mead Johnson Travel Award.”


Dr. Lin Shuan-Pei was invited to be a member of the International Experts and Scholars Team of Type 1 Mucopolysaccharidosis. In May, he went to the Academic Medical Center (AMC) of the University of Amsterdam in the Netherlands to participate in the MPS I Consensus Meeting. , North American and Australian scholars and experts jointly develop more rigorous MPS I international clinical diagnostic indicators.

May 2008

Dr. Lin Suan-Pei won the 2008 Taiwan Taiwan Mucopolysaccharidia Association’s Zhou Ai Memorial Special Contribution Award, and Dr. Lin Hsiang-Yu won the 2008 Taiwanese Mucopolysaccharidia Association’s Zhou Ai Memorial Medical Care Award.。

November 2009

After more than six months of careful planning, Dr. Lin Shuan-Pei finally succeeded in becoming the only international natural history research project of type 4 mucopolysaccharidosis (MPS IVA) in Asia (MOR-001, a precursor to the human drug test plan) Executive Center.

March 2010

Dr. Hsiang-Yu Lin won the Doctoral Student Group of the 11th “Rare Diseases PhD Thesis Award” in the 2010 Foundation for Rare Diseases.

July 2010 to June 2011

Dr. Hsiang-Yu Lin won the National Academy of Sciences “Research Talent Cultivation Program” award to assist “doctoral students to study abroad”. He studied at the Ohio State University Medical Center in the United States from July 2010 to June 2011. “ Epigenetics ” (NSC98-2917-I-010-103)。

November 2012

Dr. Hsiang-Yu Lin won the 2012 Pediatric Research Award of the Foundation of the Foundation of Pediatrics, Chen Jionglin, and the Outstanding Pediatric Physician’s Outstanding Thesis Award, and the 2012 Taiwan Pediatric Medical Association’s 212th Academic Lecture Award “Excellent Young Researcher Award”.

September 2013

The joint research team of Pediatric Genetics, Medical Research Department, Laboratory Department and foreign research institutes of MacKay Memorial Hospital has published the world’s leading paper for large-scale neonatal mucopolysaccharidosis screening with special fluorescent detection method.


Dr. Hsiang-Yu Lin won the 2013 Novartis Medical Research Outstanding Thesis Award and the “PGY Excellent Teacher” of the Ministry of Medical Education.

November 2014

Dr. Lin Shuan-Pei won the Novartis Award for Outstanding Medical Research Paper in the Medical Research Department of Maji Memorial Hospital in 2014.

January 2016

The MacKay Memorial Hospital’s Rare Disease Center was officially established.

June 2019

The “Rare Disease Center” team represented the MacKay Memorial Hospital at the awards ceremony of the 21st National Biotechnology and Medical Quality Award hosted by the Health Care Council. The theme of the “Hospital-Specific Medical Unit” proposed by the team in 2018: “Cross-domain full-body medical care for rare diseases-building a world-class medical model for mucopolysaccharidosis” passed the “2018 SNQ National Quality Label” Won the “National Silver Biomedical Quality Award-Silver Award”.

September 2019

Won the “Contribution Award for the Prevention and Treatment of Rare Diseases in 108 Years” by the National Health Agency。

October 2019

Director Lin Shuan-Pei won the “Medical Contribution Award”.