MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Wolf-Hirschhorn Syndrome

(UMLS:C1956097)

Definition:: A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
UMLS ID:: C1956097
MeSH ID:: D054877

Classification:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.077.944|C16.131.260.985|C16.320.180.985

Synonym(s)

Wolf-Hirschhorn Syndrome

4P minus syndrome

4p Deletion Syndrome

4p deletion syndrome

4p minus syndrome

4p partial monosomy syndrome

4p syndrome

4p- syndrome

Chromosomal imbalance syndrome, pair 4, deletion, short arm

10.

Chromosome 4 short arm deletion syndrome

11.

Deletion of short arm of chromosome 4

12.

Midline fusion defect syndrome

13.

WHS - Wolff-Hirschorn syndrome

14.

WOLF-HIRSCHHORN SYNDROME

15.

Wolf Hirschhorn syndrome

Associated Drug(s)

	Name	Number of Reports	Data Source
1	Sertraline	FAERS: 6	US FAERS
2	Ritonavir	FAERS: 2	US FAERS
3	Lamotrigine	FAERS: 1	US FAERS

Similar ADE(s)

	Name	Semantic Similarity
1	Beckwith-Wiedemann Syndrome	68.9%
2	Smith-Magenis syndrome	59.6%
3	Cri-du-Chat Syndrome	58.8%
4	Down Syndrome	58.8%
5	Trisomy 21	58.8%
6	Holoprosencephaly	55%
7	Prader-Willi Syndrome	51.2%
8	Rubinstein-Taybi Syndrome	47.9%
9	CHARGE Syndrome	41.6%
10	Aicardi's syndrome	38.6%
11	Ectodermal Dysplasia	38.3%
12	Aplasia Cutis Congenita	38.3%
13	Williams Syndrome	37.6%
14	Prune Belly Syndrome	36.7%
15	Waardenburg Syndrome	36.7%
16	Fragile X Syndrome	36.7%
17	Nail-Patella Syndrome	35.9%
18	Abnormalities, Drug-Induced	35.6%
19	Situs Inversus	35.6%
20	Marfan Syndrome	32%
21	Cockayne Syndrome	31%
22	Kartagener Syndrome	31%
23	Polycystic Kidney Diseases	30.1%
24	Mobius Syndrome	29.8%
25	Eye Abnormalities	29.6%
26	Cardiovascular Abnormalities	29.6%
27	Bloom Syndrome	29.3%
28	Skin Abnormalities	28.8%
29	Lymphatic Abnormalities	28.8%
30	Congenital Microtia	28.8%
31	Alstrom Syndrome	28.4%
32	Congenital diaphragmatic hernia	28.2%
33	Anencephaly	27.1%
34	Smith-Lemli-Opitz Syndrome	26.9%
35	Primary Ciliary Dyskinesia	26.6%
36	Urogenital Abnormalities	24.7%
37	Ichthyosis, X-Linked	24.1%
38	Cystic Fibrosis	23.8%
39	Maxillofacial Abnormalities	23.4%
40	Dural Arteriovenous Fistula	23.4%
41	Twins, Conjoined	23.3%
42	Dextrocardia	23.2%
43	Polycystic Kidney, Autosomal Dominant	22.3%
44	Wolf-Hirschhorn Syndrome	22.2%
45	Xeroderma	22.1%
46	Klinefelter Syndrome	21.9%
47	Turner Syndrome	21.5%
48	Fetal Diseases	21.1%
49	Neoplastic Syndromes, Hereditary	21.1%
50	POEMS Syndrome	20.8%
51	Retinal Dysplasia	20.5%
52	Aniridia	20.3%
53	Multiple Epiphyseal Dysplasia	20.3%
54	Osteochondrodysplasias	20.3%
55	Pelger-Huet Anomaly	20.3%
56	Werner Syndrome	20.3%
57	Myasthenic Syndromes, Congenital	20.3%
58	Epidermolysis Bullosa	20%
59	Classical Lissencephalies and Subcortical Band Heterotopias	19.6%
60	Anophthalmos	18.9%
61	Anus, Imperforate	18.9%
62	Hydranencephaly	18.9%
63	Microphthalmos	18.9%
64	Neural Tube Defects	18.9%
65	Tethered Cord Syndrome	18.9%
66	Iniencephaly	18.9%
67	Craniorachischisis	18.9%
68	Limb Deformities, Congenital	18.9%
69	Exencephaly	18.9%
70	Septo-Optic Dysplasia	18.9%
71	Craniofacial Abnormalities	18.9%
72	Cortical Dysplasia	18.9%
73	Malformations of Cortical Development	18.9%
74	Anorectal Malformations	18.9%
75	Anemia, Sickle Cell	18.9%
76	Thalassemia	18.9%
77	Muscular Dystrophy, Duchenne	18.8%
78	Zellweger Syndrome	18.7%
79	Scimitar Syndrome	18.5%
80	Albinism	18.3%
81	Microcephaly	18%
82	Macrocephaly	18%
83	Sjogren-Larsson Syndrome	17.8%
84	Basal Cell Nevus Syndrome	17.6%
85	Genetic Diseases, Inborn	17.5%
86	Abnormalities, Radiation-Induced	17.5%
87	Dwarfism	17.4%
88	Kallmann Syndrome	17.4%
89	Acrocephalosyndactylia	17.3%
90	Craniosynostosis	17.2%
91	Syndactyly	17.2%
92	Brachycephaly	17.2%
93	Muscular Dystrophy	16.8%
94	Osteogenesis Imperfecta	16.8%
95	Familial Mediterranean Fever	16.7%
96	Rett Syndrome	16.3%
97	Porencephaly	16.3%
98	Tuberous Sclerosis	16.2%
99	Mucopolysaccharidosis II	16.2%
100	Pseudoxanthoma Elasticum	16.1%
101	Blepharophimosis	15.9%
102	Laryngostenosis	15.9%
103	Mouth Abnormalities	15.9%
104	Esophageal Atresia	15.7%
105	Intestinal Atresia	15.7%
106	Horseshoe Kidney	15.7%
107	Pectus excavatum	15.7%
108	Klippel-Feil Syndrome	15.6%
109	Gastroschisis	15.6%
110	Synostosis	15.6%
111	Acrodermatitis	15.6%
112	Lymphangiectasis, Intestinal	15.6%
113	Noonan Syndrome	15.6%
114	Gianotti-Crosti Syndrome	15.6%
115	Meconium Aspiration Syndrome	15.4%
116	Refsum Disease	15.3%
117	Abdominal Cramps	15.3%
118	Amniotic Band Syndrome	15.3%
119	Asphyxia Neonatorum	15.3%
120	Infant, Premature, Diseases	15.3%
121	Infantile Colic	15.3%
122	Menkes Kinky Hair Syndrome	15%
123	Hyperkeratosis, Epidermolytic	15%
124	Cleft Palate	14.8%
125	Charcot-Marie-Tooth Disease	14.7%
126	Antley-Bixler Syndrome Phenotype	14.7%
127	Wiskott-Aldrich Syndrome	14.7%
128	Xeroderma Pigmentosum	14.6%
129	Autoimmune Lymphoproliferative Syndrome	14.6%
130	Jaw Abnormalities	14.3%
131	Angioedemas, Hereditary	14.2%
132	Poland Syndrome	14.2%
133	Sickle Cell Trait	14%
134	Amelia	13.9%
135	Arachnodactyly	13.9%
136	Ectopia Cordis	13.9%
137	Ectromelia	13.9%
138	Hemimelia	13.9%
139	Meningomyelocele	13.9%
140	Phocomelia	13.9%
141	Sirenomelia	13.9%
142	Spina Bifida	13.9%
143	Polydactyly	13.9%
144	Brachydactyly	13.9%
145	Plagiocephaly	13.9%
146	Lower Extremity Deformities, Congenital	13.9%
147	Upper Extremity Deformities, Congenital	13.9%
148	Single umbilical artery	13.9%
149	Arthrogryposis	13.7%
150	Choanal Atresia	13.7%
151	Tracheobronchomegaly	13.7%
152	Laryngocele	13.7%
153	Choledochal Cyst	13.6%
154	Hermaphroditism	13.6%
155	Disorders of Sex Development	13.6%
156	Cryptorchidism	13.5%
157	Hypospadias	13.5%
158	Central Nervous System Cysts	13.4%
159	Amino Acid Metabolism, Inborn Errors	13.3%
160	Carbohydrate Metabolism, Inborn Errors	13.3%
161	Dandy-Walker Syndrome	13.3%
162	Metal Metabolism, Inborn Errors	13.3%
163	Progeria	13.3%
164	Lysosomal Storage Diseases	13.3%
165	Cytochrome-c Oxidase Deficiency	13.3%
166	Peroxisomal Disorders	13.3%
167	Neuronal Ceroid-Lipofuscinoses	13.3%
168	Myotonic Dystrophy	13.2%
169	Adrenoleukodystrophy	12.3%
170	Anemia, Neonatal	12.2%
171	Persistent Fetal Circulation Syndrome	12.2%
172	Micrognathism	12.1%
173	Pierre Robin Syndrome	12.1%
174	Umbilical hernia	12%
175	Laryngomalacia	12%
176	Pectus carinatum	11.9%
177	Hepatolenticular Degeneration	11.8%
178	Bladder Exstrophy	11.7%
179	Epispadias	11.7%
180	Multicystic Dysplastic Kidney	11.6%
181	Aortic coarctation	11.6%
182	Cor Triatriatum	11.6%
183	Coronary Vessel Anomalies	11.6%
184	Dental Enamel Hypoplasia	11.6%
185	Patent ductus arteriosus	11.6%
186	Ebstein Anomaly	11.6%
187	Heart Septal Defects	11.6%
188	Hypodontia	11.6%
189	Macrostomia	11.6%
190	Meningocele	11.6%
191	Microstomia	11.6%
192	Tetralogy of Fallot	11.6%
193	Transposition of Great Vessels	11.6%
194	Hypoplastic Left Heart Syndrome	11.6%
195	May-Thurner Syndrome	11.6%
196	Encephalocele	11.6%
197	Craniofacial Dysostosis	11.5%
198	Fabry Disease	11.5%
199	Dermal Sinus	11.5%
200	Spina Bifida Cystica	11.5%
201	Wolff-Parkinson-White Syndrome	11.5%
202	Spina Bifida Occulta	11.5%
203	Lissencephaly	11.5%
204	Polymicrogyria	11.5%
205	Pachygyria	11.5%
206	Schizencephaly	11.5%
207	Periventricular Nodular Heterotopia	11.5%
208	Amyloid Neuropathies, Familial	11.4%
209	Cutis Laxa	11.2%
210	Retinitis Pigmentosa	11.2%
211	Pigmentary retinopathy	11.2%
212	Porokeratosis	11.1%
213	Keratoderma, Palmoplantar	11.1%
214	Acute Chest Syndrome	11.1%
215	Chronic granulomatous disease	11%
216	Welander Distal Myopathy	11%
217	Glycogen storage disease type II	11%
218	Retrognathia	10.9%
219	Galactosemias	10.8%
220	Urea Cycle Disorders, Inborn	10.8%
221	Tyrosinemias	10.8%
222	Neonatal Abstinence Syndrome	10.3%
223	Hyperandrogenism	10.3%
224	Mucopolysaccharidosis III	10.1%
225	Fetal Growth Retardation	10.1%
226	Ataxia Telangiectasia	10.1%
227	Fetal Hypoxia	10.1%
228	Congenital nystagmus	10.1%
229	Fetal Alcohol Spectrum Disorders	10.1%
230	Toxoplasmosis, Congenital	10%
231	Long QT Syndrome	10%
232	Platybasia	10%
233	Tricuspid Atresia	10%
234	Arrhythmogenic Right Ventricular Dysplasia	10%
235	Syphilis, Congenital	9.9%
236	Gonadal Dysgenesis	9.9%
237	Bronchomalacia	9.9%
238	Adrenogenital Syndrome	9.9%
239	Tracheomalacia	9.9%
240	Ovotesticular Disorders of Sex Development	9.9%
241	Prognathism	9.9%
242	Alkaptonuria	9.9%
243	Glycogen Storage Disease	9.9%
244	Hypophosphatasia	9.9%
245	Propionic acidemia	9.9%
246	Dihydropyrimidine Dehydrogenase Deficiency	9.9%
247	Cystinosis	9.9%
248	Optic Atrophy, Hereditary, Leber	9.8%
249	Hyperphosphaturia	9.8%
250	Duane Retraction Syndrome	9.7%
251	Canavan Disease	9.6%
252	Alexander Disease	9.6%
253	Porphyrias, Hepatic	9.6%
254	Aortopulmonary Septal Defect	9.5%
255	Double Outlet Right Ventricle	9.5%
256	Endocardial Cushion Defects	9.5%
257	Myocardial bridging	9.5%
258	Aorticopulmonary Septal Defect	9.5%
259	Peutz-Jeghers Syndrome	9.5%
260	Myotonia Congenita	9.5%
261	Thrombasthenia	9.5%
262	Antithrombin III Deficiency	9.5%
263	Protein C Deficiency	9.5%
264	Brain Diseases, Metabolic, Inborn	9.5%
265	Afibrinogenemia	9.4%
266	Dystonia Musculorum Deformans	9.4%
267	Factor VII Deficiency	9.4%
268	Factor X Deficiency	9.4%
269	Factor XII Deficiency	9.4%
270	Hemophilia A	9.4%
271	Activated Protein C Resistance	9.4%
272	Factor II deficiency	9.4%
273	Factor VIII Deficiency	9.4%
274	Factor V deficiency	9.4%
275	Factor XI Deficiency	9.4%
276	Hypoprothrombinemias	9.4%
277	Fanconi Anemia	9.4%
278	Lafora Disease	9.4%
279	Unverricht-Lundborg Syndrome	9.4%
280	Anemia, Diamond-Blackfan	9.3%
281	Homocystinuria	9%
282	Gaucher Disease	9%
283	Leigh Disease	8.9%
284	Deformity	8.8%
285	Congenital Hyperinsulinism	8.7%
286	Chorioamnionitis	8.6%
287	Multiple Endocrine Neoplasia	8.5%
288	Truncus Arteriosus, Persistent	8.5%
289	Goldenhar Syndrome	8.5%
290	Congenital Hypothyroidism	8.4%
291	Dermatitis, Atopic	8.3%
292	Tay-Sachs Disease	8.2%
293	Hypolipoproteinemias	8.2%
294	Papillon-Lefevre Disease	8.2%
295	Mandibulofacial Dysostosis	8.2%
296	Hyperlipidemia, Familial Combined	8.2%
297	Glycogen Storage Disease Type I	8.2%
298	Glycogen Storage Disease Type V	8.2%
299	Hyperlipoproteinemia Type III	8.2%
300	Romano-Ward Syndrome	8.2%
301	Hydrops Fetalis	8.1%
302	Paralysis, Obstetric	8.1%
303	Retinopathy of Prematurity	8.1%
304	Carbamoyl-Phosphate Synthase I Deficiency Disease	8.1%
305	Bronchopulmonary Dysplasia	7.9%
306	Niemann-Pick Disease, Type C	7.8%
307	Behcet Syndrome	7.4%
308	Talipes	7.4%
309	Familial Periodic Paralysis	7.1%
310	Lactose Intolerance	7%
311	Variegate Porphyria	7%
312	Acute intermittent porphyria	7%
313	Porphyria Cutanea Tarda	7%
314	Hyperhomocysteinemia	7%
315	Renal Aminoacidurias	7%
316	Fanconi Syndrome	7%
317	Pseudohypoaldosteronism	7%
318	Liddle Syndrome	7%
319	Denys-Drash Syndrome	7%
320	Hyperlipoproteinemia Type IV	7%
321	Hyperlipoproteinemia Type V	7%
322	Congenital clubfoot	6.9%
323	Vertical Talus	6.9%
324	Respiratory Distress Syndrome, Newborn	6.8%
325	Hypoalphalipoproteinemias	6.8%
326	Huntington Disease	6.6%
327	Ophthalmia Neonatorum	6.6%
328	Arteriovenous fistula	6.4%
329	Gout	6.2%
330	Multiple Endocrine Neoplasia Type 1	6.2%
331	Pseudohypoparathyroidism	6.2%
332	Friedreich Ataxia	6.1%
333	Renal tubular acidosis	6.1%
334	Nephroblastoma	6%
335	Hypokalemic periodic paralysis	5.8%
336	Cystinuria	5.8%
337	Leukomalacia, Periventricular	5.7%
338	Nesidioblastosis	5.6%
339	Adenomatous Polyposis Coli	5.4%
340	Familial Hypophosphatemic Rickets	5.3%
341	Arthritis, Gouty	5.1%
342	Hyaline Membrane Disease	5%
343	Glycosuria, Renal	4.9%
344	Kernicterus	4.5%
345	MELAS Syndrome	4%

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