A first description of the Colombian national registry for rare diseases

BMC Research Notes

Table 1 Most common disorders reordered in the Colombian registry for rare diseases

Disease	N	%	Prevalence per 100.000	n (Female)	Prevalence per 100.000	n (Male)	Prevalence per 100.000
Factor VIII deficiency	1117	8.5	2.37	77	0.32	1.040	4.47
Myasthenia gravis	839	6.4	1.78	570	2.39	269	1.16
Von Willebrand disease	779	5.9	1.65	551	2.31	228	0.98
Short stature due to growth hormone qualitative anomaly	559	4.2	1.19	203	0.85	356	1.53
Bronchopulmonary dysplasia	511	3.9	1.08	239	1.00	272	1.17
Cystic fibrosis	424	3.2	0.90	209	0.88	215	0.92
Diffuse cutaneous systemic sclerosis	408	3.1	0.87	331	1.39	77	0.33
Guillain–Barré syndrome	392	3.0	0.83	169	0.71	223	0.96
Idiopathic and/or familial pulmonary arterial hypertension	377	2.9	0.80	248	1.04	129	0.55
Acquired von Willebrand syndrome	281	2.1	0.60	211	0.88		0.00
Factor IX deficiency	270	2.0	0.57	73	0.31	197	0.85
Marfan syndrome	234	1.8	0.50	101	0.42	133	0.57
Acromegaly	232	1.8	0.49	134	0.56	98	0.42
Primary biliary cirrhosis	208	1.6	0.44	187	0.78	21	0.09
Multiple sclerosis-ichthyosis—factor VIII deficiency	196	1.5	0.42	147	0.62	49	0.21

Data corresponds to all living patients affected by rare diseases registered in the health care provider’s system (2015)

ISSN: 1756-0500