HUNTER-MACDONALD SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 66
OrphanetNr:
OMIM Id: 611962
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0011800) Midface retrusion 221 / 7739
3
(HPO:0000219) Thin upper lip vermilion 112 / 7739
4
(HPO:0000322) Short philtrum 130 / 7739
5
(HPO:0000272) Malar flattening 277 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0000341) Narrow forehead 96 / 7739
8
(HPO:0000472) Long neck 8 / 7739
9
(HPO:0000270) Delayed cranial suture closure 33 / 7739
10
(HPO:0000239) Large fontanelles 135 / 7739
11
(HPO:0000581) Blepharophimosis 197 / 7739
12
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
13
(HPO:0000545) Myopia 286 / 7739
14
(HPO:0000508) Ptosis 459 / 7739
15
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
16
(HPO:0000405) Conductive hearing impairment 164 / 7739
17
(HPO:0002858) Meningioma 22 / 7739
18
(HPO:0006824) Cranial nerve paralysis 81 / 7739
19
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
20
(HPO:0002827) Hip dislocation 94 / 7739
21
(HPO:0001836) Camptodactyly of toe 27 / 7739
22
(HPO:0009473) Joint contracture of the hand 84 / 7739
23
(HPO:0002967) Cubitus valgus 49 / 7739
24
(HPO:0001840) Metatarsus adductus 49 / 7739
25
(HPO:0003834) Shoulder dislocation 28 / 7739
26
(HPO:0001373) Joint dislocation 59 / 7739
27
(HPO:0012095) Multiple joint dislocation 24 / 7739
28
(HPO:0002750) Delayed skeletal maturation 250 / 7739
29
(HPO:0002999) Patellar dislocation 46 / 7739
30
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
31
(HPO:0002650) Scoliosis 705 / 7739
32
(HPO:0003994) Dislocated wrist 24 / 7739
33
(HPO:0005021) Bilateral elbow dislocations 24 / 7739
34
(HPO:0012385) Camptodactyly 113 / 7739
35
(HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
36
(HPO:0010584) Pseudoepiphyses 3 / 7739
37
(HPO:0002656) Epiphyseal dysplasia 25 / 7739
38
(HPO:0000768) Pectus carinatum 136 / 7739
39
(HPO:0003042) Elbow dislocation 89 / 7739
40
(HPO:0003179) Protrusio acetabuli 37 / 7739
41
(HPO:0003088) Premature osteoarthritis 10 / 7739
42
(HPO:0100490) Camptodactyly of finger 212 / 7739
43
(HPO:0000023) Inguinal hernia 181 / 7739
44
(HPO:0001537) Umbilical hernia 206 / 7739
45
(HPO:0004322) Short stature 1232 / 7739
46
(HPO:0001653) Mitral regurgitation 64 / 7739
47
(HPO:0000822) Hypertension 224 / 7739
48
(HPO:0001634) Mitral valve prolapse 69 / 7739
49
(HPO:0001659) Aortic regurgitation 36 / 7739
50
(HPO:0001643) Patent ductus arteriosus 228 / 7739
51
(HPO:0001647) Bicuspid aortic valve 34 / 7739
52
(OMIM) Tall forehead 4 / 7739
53
(OMIM) Vessel calcification (hands & feet) 1 / 7739
54
(OMIM) Severe metatarsus adductus 1 / 7739
55
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
56
(OMIM) Decreased extension (elbows and knees) 1 / 7739
57
(OMIM) Short stature, final adult height 150-160cm 1 / 7739
58
(OMIM) Degenerative hip disease 1 / 7739
59
(OMIM) cranial nerve palsy, intermittent, transient 1 / 7739
60
(HPO:0012745) Short palpebral fissure 47 / 7739
61
(OMIM) Short forth metacarpal 1 / 7739
62
(OMIM) Hyperextensible elbows 1 / 7739
63
(OMIM) Absent distal flexion creases 1 / 7739
64
(OMIM) Small flat epiphyses 2 / 7739
65
(OMIM) Prominent deltoid insertion of humerus 1 / 7739
66
(OMIM) Decreased hip extension 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hunter and MacDonald (1989) described a 21-year-old man with a mild form of epiphyseal dysplasia characterized by disproportionate short stature, congenital camptodactyly, and pulmonic valve stenosis. He was born to nonconsanguineous French Canadian parents at 8.5 months after ...