MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Mandibulofacial Dysostosis

(UMLS:C0242387)

Definition:: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
UMLS ID:: C0242387
MeSH ID:: D008342

Classification 1:

Name:

Musculoskeletal Diseases
MeSH Tree Number(s):: C05.116.099.370.231.576|C05.660.207.231.576

Classification 2:

Name:

Eye Diseases
MeSH Tree Number(s):: C11.270.147.750

Classification 3:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.621.207.231.576

Synonym(s)

Mandibulofacial Dysostosis

Berry syndrome

Berry-Treacher Collins syndrome

Franceschetti Klein syndrome

Franceschetti syndrome

Franceschetti-Zwahlen syndrome

Franceschetti-Zwahlen-Klein syndrome

Mandibulofacial dysostosis

TREACHER COLLINS SYNDROME 1

10.

Thomson complex

11.

Treacher Collins

12.

Treacher Collins Syndrome

13.

Treacher Collins syndrome

Associated Drug(s)

	Name	Number of Reports	Data Source
1	Paroxetine	FAERS: 4	US FAERS
2	Methylprednisolone	FAERS: 1	US FAERS
3	Mycophenolic Acid	FAERS: 1	US FAERS

Similar ADE(s)

	Name	Semantic Similarity
1	Platybasia	31.4%
2	Craniosynostosis	30.5%
3	Brachycephaly	30.5%
4	Klippel-Feil Syndrome	28.9%
5	Synostosis	28.9%
6	Pectus excavatum	27.1%
7	Rubinstein-Taybi Syndrome	26.1%
8	Plagiocephaly	24.9%
9	Pectus carinatum	24.8%
10	Arthrogryposis	23.5%
11	Acrocephalosyndactylia	22.6%
12	Maxillofacial Abnormalities	22%
13	Syndactyly	21.8%
14	Limb Deformities, Congenital	20.3%
15	Holoprosencephaly	20.2%
16	Microcephaly	19.8%
17	Macrocephaly	19.8%
18	CHARGE Syndrome	18.9%
19	Gastroschisis	17.4%
20	Noonan Syndrome	16.6%
21	Osteoarthropathy, Secondary Hypertrophic	15.6%
22	Retinal Dysplasia	14.9%
23	Poland Syndrome	14.8%
24	Jaw Abnormalities	14.7%
25	Gigantism	14.5%
26	Antley-Bixler Syndrome Phenotype	14.4%
27	Aniridia	14.1%
28	Multiple Epiphyseal Dysplasia	13.7%
29	Osteochondrodysplasias	13.7%
30	Aicardi's syndrome	13.6%
31	Porencephaly	13.5%
32	Eye Abnormalities	13.4%
33	Osteochondritis	13.3%
34	Retinal Degeneration	13.3%
35	Hyperostosis	12.2%
36	Osteitis	12.2%
37	Osteitis Deformans	12.2%
38	Osteochondrosis	12.2%
39	Spinal Diseases	12.2%
40	Dwarfism	12.1%
41	Amelia	11.9%
42	Arachnodactyly	11.9%
43	Ectromelia	11.9%
44	Hemimelia	11.9%
45	Phocomelia	11.9%
46	Sirenomelia	11.9%
47	Polydactyly	11.9%
48	Brachydactyly	11.9%
49	Lower Extremity Deformities, Congenital	11.9%
50	Upper Extremity Deformities, Congenital	11.9%
51	Fasciitis	11.8%
52	Foot Deformities	11.8%
53	Arthropathy	11.8%
54	Marfan Syndrome	11.2%
55	Duane Retraction Syndrome	11%
56	Retinitis Pigmentosa	11%
57	Pigmentary retinopathy	11%
58	Contracture	10.6%
59	Fasciitis, Plantar	10.6%
60	Bone Diseases, Endocrine	10.5%
61	Bone Diseases, Infectious	10.3%
62	Bone neoplasms	10.3%
63	Osteopenia	10.3%
64	Jaw Diseases	10.2%
65	Bone Resorption	10.2%
66	Aseptic Necrosis of Bone	10.2%
67	Micrognathism	10.1%
68	Pierre Robin Syndrome	10.1%
69	Laryngomalacia	10.1%
70	Cartilage Diseases	9.9%
71	Foot Diseases	9.9%
72	Myopathy	9.9%
73	Rheumatism	9.9%
74	Chondromalacia	9.9%
75	Prognathism	9.9%
76	Spinal Neoplasms	9.8%
77	Spondylitis	9.8%
78	Congenital Hypothyroidism	9.3%
79	Blepharophimosis	9.3%
80	Retrognathia	9.2%
81	Fibromyalgia	9%
82	Polymyalgia Rheumatica	9%
83	Metatarsalgia	9%
84	Nail-Patella Syndrome	9%
85	Cleft Palate	8.9%
86	Abnormalities, Drug-Induced	8.9%
87	Situs Inversus	8.9%
88	Talipes	8.8%
89	Basal Cell Nevus Syndrome	8.5%
90	Cockayne Syndrome	8.2%
91	Beckwith-Wiedemann Syndrome	8.2%
92	Wolf-Hirschhorn Syndrome	8.2%
93	Chondrodysplasia Punctata	8.1%
94	Enchondromatosis	8.1%
95	Osteosclerosis	8.1%
96	Kashin-Beck Disease	8.1%
97	Gout	8%
98	Osteogenesis Imperfecta	8%
99	Retinoblastoma	7.7%
100	Cardiovascular Abnormalities	7.7%
101	Skin Abnormalities	7.5%
102	Lymphatic Abnormalities	7.5%
103	Congenital Microtia	7.5%
104	Anophthalmos	7.4%
105	Microphthalmos	7.4%
106	Congenital diaphragmatic hernia	7.4%
107	Color blindness	7.4%
108	Albinism	7.3%
109	Smith-Magenis syndrome	7.2%
110	Cri-du-Chat Syndrome	7.1%
111	Down Syndrome	7.1%
112	Trisomy 21	7.1%
113	Rheumatic Fever	7%
114	Temporomandibular Joint Disorders	6.9%
115	Osteoarthritis, Spine	6.9%
116	Ainhum	6.8%
117	Spinal Stenosis	6.8%
118	Spondylosis	6.8%
119	Intervertebral Disc Degeneration	6.8%
120	Ischemic contracture	6.8%
121	Asthenopia	6.8%
122	Conjunctival Diseases	6.8%
123	Corneal Diseases	6.8%
124	Eyelid Diseases	6.8%
125	Lacrimal Apparatus Diseases	6.8%
126	Lens Diseases	6.8%
127	Ocular Hypertension	6.8%
128	Ocular Hypotension	6.8%
129	Retinal Diseases	6.8%
130	Scleral Diseases	6.8%
131	Vitreous Detachment	6.8%
132	Posterior Vitreous Detachment	6.8%
133	Eosinophilic Granuloma	6.7%
134	Urogenital Abnormalities	6.6%
135	Alstrom Syndrome	6.6%
136	Bronchomalacia	6.5%
137	Tracheomalacia	6.5%
138	Ectodermal Dysplasia	6.4%
139	Aplasia Cutis Congenita	6.4%
140	Congenital clubfoot	6.4%
141	Vertical Talus	6.4%
142	Prader-Willi Syndrome	6.3%
143	Arthritis	6.2%
144	Rheumatoid Arthritis	6.2%
145	Bursitis	6.2%
146	Joint Instability	6.2%
147	Myofascial Pain Syndromes	6.2%
148	Rhabdomyolysis	6.2%
149	Synovitis	6.2%
150	Joint laxity	6.2%
151	Polyarthritis	6.2%
152	Frozen shoulder	6.2%
153	Patellofemoral Pain Syndrome	6.2%
154	Juvenile arthritis	6.2%
155	Bone Diseases	6.1%
156	Discitis	6%
157	Hip Contracture	6%
158	Periarthritis	6%
159	Genetic Diseases, Inborn	5.7%
160	Uveal Neoplasms	5.7%
161	Osteomyelitis	5.7%
162	Osteoporosis	5.7%
163	Periostitis	5.7%
164	Bone Demineralization, Pathologic	5.7%
165	Post-Traumatic Osteoporosis	5.7%
166	Eyelid Neoplasms	5.7%
167	Retinal Hemorrhage	5.7%
168	Eye Infection	5.7%
169	Eye Manifestations	5.7%
170	Eye Neoplasms	5.7%
171	Optic Neuropathy	5.7%
172	Alveolar Bone Loss	5.7%
173	Femur Head Necrosis	5.7%
174	Osteolysis	5.7%
175	Anencephaly	5.6%
176	Temporomandibular Joint Dysfunction Syndrome	5.6%
177	Xerophthalmia	5.5%
178	Low Tension Glaucoma	5.5%
179	Iridocorneal endothelial syndrome	5.5%
180	Melorheostosis	5.5%
181	Osteopetrosis	5.5%
182	Orbital Myositis	5.4%
183	Optic Atrophy, Hereditary, Leber	5.3%
184	Ankylosing spondylitis	5.3%
185	Compartment syndromes	5.3%
186	Maxillary Diseases	5.3%
187	Tendinitis	5.3%
188	Tendinopathy	5.3%
189	Tuberculosis, Spinal	5.2%
190	Hemarthrosis	5.2%
191	Myositis	5.2%
192	Tietze's Syndrome	5.2%
193	Isaacs syndrome	5.2%
194	Myotonic Disorders	5.2%
195	Kartagener Syndrome	5%
196	Xeroderma	5%
197	Mobius Syndrome	5%
198	Corneal Scar	4.9%
199	Dural Arteriovenous Fistula	4.9%
200	Abnormalities, Radiation-Induced	4.9%
201	Ocular Motility Disorders	4.9%
202	Cyclophoria	4.9%
203	Dextrocardia	4.9%
204	Prune Belly Syndrome	4.9%
205	Twins, Conjoined	4.9%
206	Waardenburg Syndrome	4.9%
207	Acromegaly	4.9%
208	Joint Tuberculosis	4.9%
209	Tuberculosis, Osteoarticular	4.9%
210	Bone Tuberculosis	4.9%
211	Osteoarthritis, Knee	4.9%
212	Pupil Disorders	4.9%
213	Arthritis, Gouty	4.8%
214	Fetal Diseases	4.8%
215	Eye Hemorrhage	4.8%
216	Vision Disorders	4.8%
217	Metamorphopsia	4.8%
218	Visual Impairment	4.8%
219	Eye Injuries	4.8%
220	Corneal Ulcer	4.7%
221	Choroid Hemorrhage	4.7%
222	Muscular Dystrophy	4.7%
223	Retinopathy of Prematurity	4.7%
224	Arthritis, Psoriatic	4.6%
225	Keratoconjunctivitis Sicca	4.6%
226	Medial Tibial Stress Syndrome	4.5%
227	Familial Periodic Paralysis	4.5%
228	Mitochondrial Myopathies	4.5%
229	Muscle Cramp	4.5%
230	Eosinophilia-Myalgia Syndrome	4.5%
231	Muscle Rigidity	4.4%
232	Muscle Spasticity	4.4%
233	Cogwheel Rigidity	4.4%
234	Nuchal Rigidity	4.4%
235	Keratoconjunctivitis	4.3%
236	Pseudohypoparathyroidism	4.3%
237	Spondylarthropathies	4.3%
238	Rickets	4.3%
239	Chorioretinitis	4.3%
240	Sicca Syndrome	4.2%
241	Sjogren's Syndrome	4.2%
242	Lordosis	4.2%
243	Spondylolysis	4.2%
244	kyphosis	4.2%
245	Rheumatoid Nodule	4.2%
246	Myotonic Dystrophy	4.1%
247	Anus, Imperforate	4.1%
248	Hydranencephaly	4.1%
249	Neural Tube Defects	4.1%
250	Tethered Cord Syndrome	4.1%
251	Iniencephaly	4.1%
252	Craniorachischisis	4.1%
253	Exencephaly	4.1%
254	Septo-Optic Dysplasia	4.1%
255	Cortical Dysplasia	4.1%
256	Malformations of Cortical Development	4.1%
257	Anorectal Malformations	4.1%
258	Hordeolum	4.1%
259	Bloom Syndrome	4.1%
260	Chronic Fatigue Syndrome	4.1%
261	Polycystic Kidney Diseases	4.1%
262	Williams Syndrome	4.1%
263	Scimitar Syndrome	4%
264	Congenital nystagmus	4%
265	Angioid Streaks	3.9%
266	Anisometropia	3.9%
267	Aphakia	3.9%
268	Astigmatism	3.9%
269	Blepharitis	3.9%
270	Blepharoptosis	3.9%
271	Blepharospasm	3.9%
272	Choroid Diseases	3.9%
273	Conjunctivitis	3.9%
274	Corneal edema	3.9%
275	Corneal Opacity	3.9%
276	Dacryocystitis	3.9%
277	Dry Eye Syndromes	3.9%
278	Ectropion	3.9%
279	Enophthalmos	3.9%
280	Entropion	3.9%
281	Episcleritis	3.9%
282	Exophthalmos	3.9%
283	Glaucoma	3.9%
284	Iris Diseases	3.9%
285	Keratitis	3.9%
286	Keratoconus	3.9%
287	Lacrimal Duct Obstruction	3.9%
288	Lens dislocation	3.9%
289	Lens Subluxation	3.9%
290	Mydriasis	3.9%
291	Myopia	3.9%
292	Presbyopia	3.9%
293	Pterygium	3.9%
294	Retinal Detachment	3.9%
295	Retinitis	3.9%
296	Scleritis	3.9%
297	Uveitis	3.9%
298	Corneal Neovascularization	3.9%
299	Orbital Pseudotumor	3.9%
300	Cataract	3.9%
301	Pinguecula	3.9%
302	Trichiasis	3.9%
303	Giant Cell Epulis	3.9%
304	Muscle Weakness	3.9%
305	Musculoskeletal Pain	3.9%
306	Trachoma	3.9%
307	Arthralgia	3.9%
308	Polyarthralgia	3.9%
309	Arthritis, Reactive	3.8%
310	Cystic Fibrosis	3.8%
311	Pars Planitis	3.8%
312	Felty Syndrome	3.7%
313	Epidermolysis Bullosa	3.6%
314	Bunion	3.6%
315	Fibrodysplasia Ossificans Progressiva	3.6%
316	Laryngostenosis	3.6%
317	Mouth Abnormalities	3.6%
318	Myoglobinuria	3.6%
319	Myositis Ossificans	3.6%
320	Tenosynovitis	3.6%
321	Sacroiliitis	3.6%
322	Esophageal Atresia	3.5%
323	Intestinal Atresia	3.5%
324	Horseshoe Kidney	3.5%
325	Acrodermatitis	3.5%
326	Lymphangiectasis, Intestinal	3.5%
327	Gianotti-Crosti Syndrome	3.5%
328	Choroiditis	3.5%
329	Iridocyclitis	3.5%
330	Iritis	3.5%
331	Osteoporosis, Postmenopausal	3.5%
332	Muscular Dystrophy, Duchenne	3.4%
333	Myalgia	3.4%
334	Ophthalmia Neonatorum	3.4%
335	Smith-Lemli-Opitz Syndrome	3.4%
336	Ichthyosis, X-Linked	3.4%
337	Meconium Aspiration Syndrome	3.4%
338	Acanthamoeba Keratitis	3.3%
339	Endophthalmitis	3.3%
340	Optic Atrophy	3.3%
341	Optic Neuritis	3.3%
342	Papilledema	3.3%
343	Pemphigoid, Benign Mucous Membrane	3.3%
344	Retinal Artery Occlusion	3.3%
345	Strabismus	3.3%
346	Tolosa-Hunt Syndrome	3.3%
347	Orbital Cellulitis	3.3%
348	Retinal Vasculitis	3.3%
349	Hypertensive Retinopathy	3.3%
350	Retrobulbar Hemorrhage	3.3%
351	Corneal Endothelial Cell Loss	3.3%
352	Keratitis, Herpetic	3.3%
353	Cytomegalovirus Retinitis	3.3%
354	Bone Diseases, Developmental	3.3%
355	Hyphema	3.3%
356	Retinal Neovascularization	3.3%
357	Vitreous Hemorrhage	3.3%
358	Bacterial conjunctivitis	3.3%
359	Myotonia Congenita	3.3%
360	Rheumatoid Vasculitis	3.2%
361	Palatal Neoplasms	3.2%
362	Corneal Perforation	3.2%
363	Fragile X Syndrome	3.2%
364	Choanal Atresia	3.2%
365	Tracheobronchomegaly	3.2%
366	Laryngocele	3.2%
367	Choledochal Cyst	3.1%
368	Hermaphroditism	3.1%
369	Disorders of Sex Development	3.1%
370	Cryptorchidism	3.1%
371	Hypospadias	3.1%
372	Central Nervous System Cysts	3.1%
373	Dandy-Walker Syndrome	3.1%
374	POEMS Syndrome	3%
375	Arthritis, Infectious	3%
376	Primary Ciliary Dyskinesia	3%
377	Pseudoxanthoma Elasticum	3%
378	Mastoiditis	3%
379	Petrositis	3%
380	Anterior Compartment Syndrome	3%
381	Enthesopathy	3%
382	Arthritis, Experimental	3%
383	Abdominal Compartment Syndrome	3%
384	Polymyositis	3%
385	Abdominal Cramps	3%
386	Amniotic Band Syndrome	3%
387	Asphyxia Neonatorum	3%
388	Infant, Premature, Diseases	3%
389	Infantile Colic	3%
390	Spondylolisthesis	2.9%
391	Optic Neuropathy, Ischemic	2.9%
392	Anterior Ischemic Optic Neuropathy	2.9%
393	Retinal Vein Occlusion	2.8%
394	Anisocoria	2.8%
395	Diabetic Retinopathy	2.8%
396	Tonic Pupil	2.8%
397	Eye pain	2.8%
398	Diplopia	2.8%
399	Scotoma	2.8%
400	Photophobia	2.8%
401	Amaurosis	2.8%
402	Blindness	2.8%
403	Welander Distal Myopathy	2.8%
404	Xeroderma Pigmentosum	2.8%
405	Bladder Exstrophy	2.7%
406	Epispadias	2.7%
407	Turner Syndrome	2.7%
408	Multicystic Dysplastic Kidney	2.7%
409	Panophthalmitis	2.6%
410	Hypokalemic periodic paralysis	2.6%
411	Hip Dislocation	2.6%
412	Shoulder Dislocation	2.6%
413	Hip Dysplasia	2.6%
414	Sjogren-Larsson Syndrome	2.6%
415	Osteomalacia	2.6%
416	Angle Closure Glaucoma	2.6%
417	Glaucoma, Open-Angle	2.6%
418	Macular degeneration	2.6%
419	Panuveitis	2.6%
420	Retinal Drusen	2.6%
421	Retinal Necrosis Syndrome, Acute	2.6%
422	Retinoschisis	2.6%
423	Exfoliation Syndrome	2.6%
424	Dupuytren Contracture	2.6%
425	Pyomyositis	2.6%
426	Neoplastic Syndromes, Hereditary	2.6%
427	Anemia, Neonatal	2.5%
428	Pelger-Huet Anomaly	2.5%
429	Persistent Fetal Circulation Syndrome	2.5%
430	Werner Syndrome	2.5%
431	Craniofacial Abnormalities	2.5%
432	Myasthenic Syndromes, Congenital	2.5%
433	Ophthalmoplegia	2.5%
434	External Ophthalmoplegia	2.5%
435	Amblyopia	2.5%
436	Umbilical hernia	2.5%
437	Zellweger Syndrome	2.4%
438	Kallmann Syndrome	2.4%
439	Ectopia Cordis	2.4%
440	Meningomyelocele	2.4%
441	Spina Bifida	2.4%
442	Single umbilical artery	2.4%
443	Polycystic Kidney, Autosomal Dominant	2.4%
444	Classical Lissencephalies and Subcortical Band Heterotopias	2.4%
445	Shoulder Pain	2.2%
446	Neonatal Abstinence Syndrome	2.2%
447	Esotropia	2.2%
448	Exotropia	2.2%
449	Choroidal Neovascularization	2.2%
450	Charcot-Marie-Tooth Disease	2.2%
451	Fetal Growth Retardation	2.1%
452	Fetal Hypoxia	2.1%
453	Fetal Alcohol Spectrum Disorders	2.1%
454	Toxoplasmosis, Congenital	2.1%
455	Aortic coarctation	2.1%
456	Cor Triatriatum	2.1%
457	Coronary Vessel Anomalies	2.1%
458	Dental Enamel Hypoplasia	2.1%
459	Patent ductus arteriosus	2.1%
460	Ebstein Anomaly	2.1%
461	Heart Septal Defects	2.1%
462	Hypodontia	2.1%
463	Macrostomia	2.1%
464	Meningocele	2.1%
465	Microstomia	2.1%
466	Syphilis, Congenital	2.1%
467	Tetralogy of Fallot	2.1%
468	Transposition of Great Vessels	2.1%
469	Hypoplastic Left Heart Syndrome	2.1%
470	May-Thurner Syndrome	2.1%
471	Encephalocele	2.1%
472	Craniofacial Dysostosis	2.1%
473	Wolff-Parkinson-White Syndrome	2.1%
474	Kearns-Sayre syndrome	2.1%
475	Tuberous Sclerosis	2.1%
476	Klinefelter Syndrome	2%
477	Anemia, Sickle Cell	2%
478	Thalassemia	2%
479	Mitochondrial Encephalomyopathies	2%
480	Nose Neoplasms	2%
481	Dysostoses	1.9%
482	Refsum Disease	1.9%
483	Anterior uveitis	1.9%
484	Uveitis, Posterior	1.9%
485	Hyperkeratosis, Epidermolytic	1.9%
486	Renal Osteodystrophy	1.9%
487	Renal rickets	1.9%
488	Uveomeningoencephalitic Syndrome	1.9%
489	Autoimmune Lymphoproliferative Syndrome	1.9%
490	Herpes Zoster Ophthalmicus	1.9%
491	Congenital Hyperinsulinism	1.9%
492	Chorioamnionitis	1.9%
493	Hemianopsia	1.8%
494	Amaurosis Fugax	1.8%
495	Blindness, Cortical	1.8%
496	Angioedemas, Hereditary	1.8%
497	Long QT Syndrome	1.8%
498	Tricuspid Atresia	1.8%
499	Arrhythmogenic Right Ventricular Dysplasia	1.8%
500	Gonadal Dysgenesis	1.8%
501	Adrenogenital Syndrome	1.8%
502	Ovotesticular Disorders of Sex Development	1.8%
503	Opsoclonus-Myoclonus Syndrome	1.8%
504	Graves Disease	1.7%
505	Behcet Syndrome	1.6%
506	Horner Syndrome	1.6%
507	Wiskott-Aldrich Syndrome	1.6%
508	Miller Fisher Syndrome	1.6%
509	Familial Mediterranean Fever	1.6%
510	Dermal Sinus	1.6%
511	Spina Bifida Cystica	1.6%
512	Spina Bifida Occulta	1.6%
513	Lissencephaly	1.6%
514	Polymicrogyria	1.6%
515	Pachygyria	1.6%
516	Schizencephaly	1.6%
517	Periventricular Nodular Heterotopia	1.6%
518	Hyperandrogenism	1.6%
519	Dermatomyositis	1.4%
520	Menkes Kinky Hair Syndrome	1.4%
521	Aortopulmonary Septal Defect	1.4%
522	Double Outlet Right Ventricle	1.4%
523	Endocardial Cushion Defects	1.4%
524	Rett Syndrome	1.4%
525	Myocardial bridging	1.4%
526	Aorticopulmonary Septal Defect	1.4%
527	Paralysis, Obstetric	1.4%
528	Amino Acid Metabolism, Inborn Errors	1.4%
529	Carbohydrate Metabolism, Inborn Errors	1.4%
530	Metal Metabolism, Inborn Errors	1.4%
531	Progeria	1.4%
532	Lysosomal Storage Diseases	1.4%
533	Cytochrome-c Oxidase Deficiency	1.4%
534	Peroxisomal Disorders	1.4%
535	Ataxia Telangiectasia	1.4%
536	Bronchopulmonary Dysplasia	1.4%
537	Mucopolysaccharidosis II	1.3%
538	Familial Hypophosphatemic Rickets	1.3%
539	Neuronal Ceroid-Lipofuscinoses	1.3%
540	MELAS Syndrome	1.2%
541	Mandibulofacial Dysostosis	1.2%
542	Romano-Ward Syndrome	1.2%
543	Sickle Cell Trait	1.2%
544	Hepatolenticular Degeneration	1.2%
545	Ophthalmoplegic Migraine	1.2%
546	Respiratory Distress Syndrome, Newborn	1.2%
547	Progressive supranuclear palsy	1.2%
548	Cutis Laxa	1.2%
549	Amyloid Neuropathies, Familial	1.2%
550	Porokeratosis	1.2%
551	Keratoderma, Palmoplantar	1.2%
552	Chronic granulomatous disease	1.2%
553	Adrenoleukodystrophy	1.1%
554	Neuromyelitis Optica	1.1%
555	Hydrops Fetalis	1%
556	Porphyrias, Hepatic	1%
557	Truncus Arteriosus, Persistent	1%
558	Goldenhar Syndrome	1%
559	Peutz-Jeghers Syndrome	1%
560	Thrombasthenia	1%
561	Antithrombin III Deficiency	1%
562	Protein C Deficiency	1%
563	Brain Diseases, Metabolic, Inborn	1%
564	Afibrinogenemia	1%
565	Dystonia Musculorum Deformans	1%
566	Factor VII Deficiency	1%
567	Factor X Deficiency	1%
568	Factor XII Deficiency	1%
569	Hemophilia A	1%
570	Leukomalacia, Periventricular	1%
571	Activated Protein C Resistance	1%
572	Factor II deficiency	1%
573	Factor VIII Deficiency	1%
574	Factor V deficiency	1%
575	Factor XI Deficiency	1%
576	Hypoprothrombinemias	1%
577	Fanconi Anemia	1%
578	Nesidioblastosis	1%
579	Lafora Disease	1%
580	Unverricht-Lundborg Syndrome	1%
581	Anemia, Diamond-Blackfan	1%
582	Acute Chest Syndrome	1%
583	Arteriovenous fistula	1%
584	Galactosemias	1%
585	Urea Cycle Disorders, Inborn	1%
586	Tyrosinemias	1%
587	Fabry Disease	0.9%
588	Canavan Disease	0.9%
589	Alexander Disease	0.9%
590	Multiple Endocrine Neoplasia	0.9%
591	Optic Nerve Glioma	0.9%
592	Dermatitis, Atopic	0.9%
593	Denys-Drash Syndrome	0.9%
594	Radicular Cyst	0.9%
595	Hyperphosphaturia	0.9%
596	Kernicterus	0.8%
597	Alkaptonuria	0.8%
598	Glycogen Storage Disease	0.8%
599	Hypophosphatasia	0.8%
600	Propionic acidemia	0.8%
601	Dihydropyrimidine Dehydrogenase Deficiency	0.8%
602	Cystinosis	0.8%
603	Glycogen storage disease type II	0.8%
604	Huntington Disease	0.7%
605	Homocystinuria	0.7%
606	Leigh Disease	0.7%
607	Mucopolysaccharidosis III	0.7%
608	Hyaline Membrane Disease	0.7%
609	Hypolipoproteinemias	0.7%
610	Papillon-Lefevre Disease	0.7%
611	Hyperlipidemia, Familial Combined	0.7%
612	Hyperlipoproteinemia Type III	0.7%
613	Nephroblastoma	0.7%
614	Adenomatous Polyposis Coli	0.6%
615	Lactose Intolerance	0.6%
616	Variegate Porphyria	0.6%
617	Acute intermittent porphyria	0.6%
618	Porphyria Cutanea Tarda	0.6%
619	Hyperhomocysteinemia	0.6%
620	Renal Aminoacidurias	0.6%
621	Fanconi Syndrome	0.6%
622	Pseudohypoaldosteronism	0.6%
623	Liddle Syndrome	0.6%
624	Hyperlipoproteinemia Type IV	0.6%
625	Hyperlipoproteinemia Type V	0.6%
626	Carbamoyl-Phosphate Synthase I Deficiency Disease	0.6%
627	Gaucher Disease	0.5%
628	Multiple Endocrine Neoplasia Type 1	0.5%
629	Friedreich Ataxia	0.5%
630	Renal tubular acidosis	0.5%
631	Glycogen Storage Disease Type I	0.5%
632	Glycogen Storage Disease Type V	0.5%
633	Hypoalphalipoproteinemias	0.5%
634	Glycosuria, Renal	0.4%
635	Niemann-Pick Disease, Type C	0.4%
636	Tay-Sachs Disease	0.4%
637	Cystinuria	0.4%

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