MCID: MCD002
MIFTS: 23

Mcdonough Syndrome

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mcdonough Syndrome

MalaCards integrated aliases for Mcdonough Syndrome:

Name: Mcdonough Syndrome 56 52 58 71
Mental Retardation, Peculiar Facies, Kyphoscoliosis, Diastasis Recti, Cryptorchidism, and Congenital Heart Defect 52

Characteristics:

Orphanet epidemiological data:

58
mcdonough syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
mcdonough syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Mcdonough Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2471 Definition McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus , large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mcdonough Syndrome, also known as mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect, is related to cryptorchidism, unilateral or bilateral and multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Affiliated tissues include heart, tongue and eye, and related phenotypes are intellectual disability and prominent supraorbital ridges

More information from OMIM: 248950

Related Diseases for Mcdonough Syndrome

Diseases related to Mcdonough Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cryptorchidism, unilateral or bilateral 10.3
2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.3
3 47,xyy 10.1

Symptoms & Phenotypes for Mcdonough Syndrome

Human phenotypes related to Mcdonough Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
5 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
6 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
9 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
10 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
11 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
12 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
13 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
14 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
15 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
16 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
17 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
20 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
21 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
22 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
23 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
24 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
25 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
26 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
27 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
28 pectus carinatum 31 HP:0000768
29 abnormal facial shape 31 HP:0001999
30 malformation of the heart and great vessels 58 Very frequent (99-80%)
31 hypoplastic toenails 31 HP:0001800
32 atrial septal defect 31 HP:0001631
33 kyphoscoliosis 31 HP:0002751
34 upslanted palpebral fissure 31 HP:0000582
35 ventricular septal defect 31 HP:0001629
36 pulmonic stenosis 31 HP:0001642
37 furrowed tongue 31 HP:0000221
38 diastasis recti 31 HP:0001540
39 sparse hair 31 HP:0008070
40 single transverse palmar crease 31 HP:0000954
41 aortic valve stenosis 31 HP:0001650
42 radial deviation of finger 31 HP:0009466
43 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
hypertelorism
strabismus
micrognathia
ptosis
short philtrum
more
Growth:
short stature

Limbs:
hypoplastic toenails
single transverse palmar crease
clinodactyly

Abdomen:
diastasis recti

Neuro:
mental retardation

Skel:
pectus carinatum
pectus excavatum
kyphoscoliosis

G U:
cryptorchidism

Cardiac:
atrial septal defect
ventricular septal defect
pulmonic stenosis
congenital heart defect
aortic stenosis

Skin:
sparse hair
bristly hair

Clinical features from OMIM:

248950

Drugs & Therapeutics for Mcdonough Syndrome

Search Clinical Trials , NIH Clinical Center for Mcdonough Syndrome

Genetic Tests for Mcdonough Syndrome

Anatomical Context for Mcdonough Syndrome

MalaCards organs/tissues related to Mcdonough Syndrome:

40
Heart, Tongue, Eye

Publications for Mcdonough Syndrome

Articles related to Mcdonough Syndrome:

# Title Authors PMID Year
1
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation. 56 61
6147215 1984
2
Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father). 56 61
1189520 1975
3
[McDonough syndrome]. 61
11528671 2001

Variations for Mcdonough Syndrome

Expression for Mcdonough Syndrome

Search GEO for disease gene expression data for Mcdonough Syndrome.

Pathways for Mcdonough Syndrome

GO Terms for Mcdonough Syndrome

Sources for Mcdonough Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....