As of January 2017, there are 319* patients in the PSOD registry accounting for 63 rare disorders listed below:

1. Adrenoleukodystrophy
2. Alagille Syndrome
3. Agammaglobulinemia (X-linked Bruton’s Agammaglobulinemia)
4. Apert Syndrome
5. ASALS Urea Cycle Defect
6. Blue Rubber Bleb Nevus Syndrome
7. Carbamoyl Phosphate Synthetase Deficiency
8. CHARGE Syndrome
9. Cornelia de Lange Syndrome
10. Congenital Central Hypoventilation Syndrome
11. Cyclic Neutropenia
12. Ellis-van Creveld Syndrome
13. Dystrophic Epidermolysis Bullosa
14. Fabry Disease
15. Fanconi Anemia
16. Fibrodysplasia Ossificans Progressiva
17. Freeman-Sheldon Syndrome
18. Galactosemia
19. Gaucher Disesase
20. GM1 Gangliosidosis
21. Glutartic Aciduria
22. Hallervorden-Spatz Disease
23. Hereditary Angioedema
24. Heterozygous Cystathioninuria
25. Hemophagocytic Lymphohistiocystosis
26. Holocarboxylase Synthetase Deficiency
27. Holt-Oram Syndrome
28. Homocystinuria
29. Homozygous Cystinuria
30. Hyperphenylalaninemia
31. Job Syndrome (Hyper IgE Syndrome)
32. Lesch-Nyhan Syndrome
33. Liddle Syndrome
34. Lowe Syndrome
35. LSD- Multiple Sulfatase Syndrome
36. Maple Syrup Urine Disease
37. Menkes Syndrome
38. Methylmalonic Acidemia
39. Moebius Syndrome
40. Mowat-Wilson Syndrome
41. Mucolipidosis
42. Mucopolysaccharidosis
a. MPS I – Hurler Syndrome
b. MPS II – Hunter Syndrome
c. MPS III – Sanfilippo Syndrome
d. MPS IV – Morquio Syndrome
e. MPS VI – Maroteaux-Lamy Syndrome
43. Niemann-Pick Disease
44. Osteogenesis Imperfecta
45. Pelizaeus-Merzbacher Disease
46. Phenylketonuria
47. Pompe Disease
48. Prader-Willi Syndrome
49. 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
50. Respiratory Chain Complex Deficiency
51. Rett Syndrome
52. Rhizomelic Chondrodysplasia Punctata
53. Rubinstein-Taybi Syndrome
54. Sacral Agenesis/Caudal Regression Syndrome
55. Shprintzen-Goldberg Syndrome
56. Spinal Muscular Atrophy
57. Thanatophoric Dysplasia
58. Tay-Sachs Disease
59. Tyrosinemia
60. VACTERL Syndrome
61. Waardenburg Syndrome
62. Wiskott Aldrich Syndrome
63. Wilson Disease

*Total includes patients lost to follow-up

MAPLE SYRUP URINE DISEASE (MSUD)

Number of patients in the PSOD registry (as of August 2011): 26

Description: Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

Longevity without meds: 1 month old

Prevalence: 1 in 50,000-100,000

METHYLMALONIC ACIDURIA (MMA)

Number of patients in the PSOD registry (as of August 2011): 1

Description: Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants experience vomiting, dehydration, weak muscle tone (hypotonia), excessive tiredness (lethargy), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Longevity without meds: 1 month old

Prevalence: 1 in 50,000-100,000

GALACTOSEMIA (GAL)

Number of patients in the PSOD registry (as of August 2011): 12

Description: GALACTOSEMIA is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. A child born with Galactosemia may become mentally retarded if not diet restricted by 3 weeks.

Longevity without meds: May die at 1-2 weeks from severe gram negative or liver failure bacteria infections.

Prevalence: Worldwide – 1:7,500-80,000; Philippines – 1:68,537

In the Philippines, Galactosemia can be detected through Newborn Screening.

PHENYLKETONURIA (PKU)

Number of patients in the PSOD registry (as of August 2011): 13 

Description: PHENYLKETONURIA is a rare inherited metabolic disease that is characterized by levels of the amino acid phenylalanine. If left untreated, excess levels of phenylalanine can cause mental retardation, seizures, movement disorders, and other serious health problems. The earlier these children are diagnosed and treated, the less risk of permanent damage. 

Longevity without meds: May reach adulthood but become mentally retarded if not diet restricted by 3 weeks.

Prevalence: Worldwide – 1 : 10-20,000; USA – 1:15,00-25,000; Philippines – 1:102,000

In the Philippines, PKU can be detected through Newborn Screening.

GAUCHER’S DISEASE

Number of patients in the PSOD registry (as of August 2011): 5

Description: GAUCHER’S DISEASE is an inherited illness caused by a mutation in the glucocerebrosidase gene leading to the deficiency of glococerebrosidase. Glucocerebrosidase is an enzyme that breaks down a particular type of fat cell called glucocerebroside. Deficiency in glucocerebrosidase enzyme leads to the accumulation of glucocerebrosides in the brain, liver, spleen, skeleton, and other parts of the body leading to dysfunction of these organs. 

Longevity without meds: Type I: 6-80 yrs old; Type II: 2 yrs old; Type III: 2-60 yrs old

Prevalence: Worldwide – 1:7,500-80,000; Philippines – 1:68,537

POMPE’S DISEASE

Number of patients in the PSOD registry (as of August 2011): 1

Description: POMPE DISEASE is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from their parents. There is a defect in a gene that is responsible for making an enzyme called acid alpha-glucosidase (GAA) which is either missing or in short supply. Patients suffer progressive and debilitating muscular weakness resulting in severe physical disability and dependence on ventilatory support system. The heart and lungs eventually become weak and patients finally succumb to heart and/or pulmonary failure.

Longevity without meds: Infantile form: 12 months; Delayed onset: 2nd-3rd decade of life

Prevalence: Worldwide – 1:40,000

MUCOPOLYSACCHARIDOSIS (MPS)

Number of patients in the PSOD registry (as of August 2011): 21

Description: Mucopolysaccharidoses (MPS) are caused by the body’s inability to produce specific enzymes to break down and recycle materials in cells. In individuals with MPS, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

Longevity without meds: Type I: 10 yrs old; Type II: 15-20 yrs old; Type III: 8-10 yrs following onset of symptoms; Type IV: may not live beyond 2nd or 3rd decade of life

Prevalence: Worldwide : Type 1-1:10,000; Type II-1: 40,000; Type III-1: 70,000; Type IV-1:200,000

Treatment is available for some types of MPS but the cost too expensive—considered as one of the most expensive in the world.

OSTEOGENESIS IMPERFECTA (OI)

Number of patients in the PSOD registry (as of August 2011): 15

Description: Osteogenesis imperfect is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.

Prevalence: Worldwide-1:50,000

CORNELIA DE LANGE SYNDROME

Number of patients in the PSOD registry (as of August 2011): 14

Description: Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. CdLS is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. The facial differences include arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.

Prevalence: Worldwide-1:10,000-30,000

APERT SYNDROME

Number of patients in the PSOD registry (as of August 2011): 1

Description: APERT SYNDROME is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Prevalence: Worldwide-1 in 65,000-88,000 newborns

MOEBIUS SEQUENCE

Number of patients in the PSOD registry (as of August 2011): 11

Description: MOEBIUS SYNDROME (or Moebius Sequence) is a rare neurological disorder that is present at birth.  It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.  Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th.  There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present.  Approximately 30% of children with Moebius syndrome are on the autism spectrum.

Prevalence: 1 in 50,000-500,000

RETT SYNDROME

Number of patients in the PSOD registry (as of August 2011): 1

RETT SYNDROME is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett syndrome is a developmental disorder. It is not a degenerative disorder and strikes all racial and ethnic groups.

Prevalence: Occurs worldwide in 1 of every 10,000 to 23,000 female births.

CENTRAL CONGENITAL HYPOVENTILATION SYNDROME (CCHS)

Number of patients in the PSOD registry (as of August 2011): 1

Description: Congenital Central Hypoventilation Syndrome (CCHS) or Syndrome d’Ondine is a disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS child’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is typically sluggish during awake hours and absent, to varying degrees, during sleep, serious illness, and/or stress.

CCHS implies systematic mechanical ventilation, compulsory and vital, breathing through a tracheotomy or a nasal mask for the older ones, for the rest of their life. Despite this serious handicap, most children can lead a life “almost normal”, thanks to an important parental supervision and very strict medical monitoring. Some CCHS patient (children or adults) suffer also from various disorder cardiac, body temperature, ocular, digestive, psychological and behavior.

Prevalence: Worldwide-1 in 200,000

ADRENOLEUKODYSTROPHY (ALD)

Number of patients in the PSOD registry (as of August 2011): 1

Description: Adrenoleukodystrophy (ALD) is a rare genetic disorder characterized by the breakdown or loss of the myelin sheath surrounding the nerve cells in the brain and progressive dysfunction of the adrenal gland. Leukodystrophy is a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintainance of the myelin sheath that insulates nerve cells. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient.

Longevity without meds: Death usually occurs within 1 to 10 years after the onset of symptoms.

Prevalence: Worldwide-1 in 17,600

Got time on your hands? Become a Volunteer!

PSOD needs volunteers to help us organize and raise funds
for our upcoming Events and Programs.

JOIN US NOW

NEWSLETTER SIGN-UP

Join our mailing list to receive updates straight to your inbox.