McDonough syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 50
OrphanetNr: 2471
OMIM Id: 248950
ICD-10: Q87.8
UMLs: C0796038
MeSH: C538158
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
4
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
5
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
8
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
9
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
10
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
11
 (HPO:0000448) Prominent nose 56 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
13
 (HPO:0001999) Abnormal facial shape 169 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
16
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
17
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
18
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
19
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
20
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
21
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
22
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
25
 (HPO:0000768) Pectus carinatum 136 / 7739
26
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
27
 (HPO:0009466) Radial deviation of finger 101 / 7739
28
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
29
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
30
 (HPO:0002751) Kyphoscoliosis 131 / 7739
31
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
32
 (HPO:0001540) Diastasis recti 23 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
35
 (HPO:0001800) Hypoplastic toenails 74 / 7739
36
 (HPO:0008070) Sparse hair 94 / 7739
37
 (HPO:0001629) Ventricular septal defect 316 / 7739
38
 (HPO:0001642) Pulmonic stenosis 89 / 7739
39
 (HPO:0001650) Aortic valve stenosis 49 / 7739
40
 (HPO:0001631) Atria septal defect 274 / 7739
41
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
42
 (OMIM) Peculiar facies 7 / 7739
43
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
44
 (OMIM) Bristly hair 1 / 7739
45
 (OMIM) Grooved tongue 1 / 7739
46
 (HPO:0030084) Clinodactyly 90 / 7739
47
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
48
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
49
 (OMIM) Anteverted auricles 1 / 7739
50
 (MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: