Mandibuloacral dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MAD
Number of Symptoms 71
OrphanetNr: 2457
OMIM Id: 248370
608612
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 37 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Genetic lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Genetic progeroid syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000293) Full cheeks 85 / 7739
3
 (HPO:0006480) Premature loss of teeth 23 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000468) Increased adipose tissue around the neck 3 / 7739
6
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
7
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
8
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
9
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
10
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
11
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
12
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
13
 (HPO:0000520) Proptosis 192 / 7739
14
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
15
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
16
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
17
 (HPO:0000418) Narrow nasal ridge 15 / 7739
18
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
19
 (HPO:0000678) Dental crowding 65 / 7739
20
 (HPO:0002209) Sparse scalp hair 59 / 7739
21
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
22
 (HPO:0002645) Wormian bones 65 / 7739
23
 (HPO:0000287) Increased facial adipose tissue 3 / 7739
24
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
25
 (HPO:0000320) Bird-like facies 4 / 7739
26
 (HPO:0000347) Micrognathia 426 / 7739
27
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
28
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
29
 (HPO:0000842) Hyperinsulinemia 39 / 7739
30
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
31
 (HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
32
 (HPO:0000894) Short clavicles 30 / 7739
33
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
34
 (HPO:0000905) Progressive clavicular acroosteolysis 4 / 7739
35
 (HPO:0001371) Flexion contracture 220 / 7739
36
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
37
 (HPO:0002797) Osteolysis Frequent [Orphanet] 68 / 7739
38
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
39
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
40
 (HPO:0001870) Acroosteolysis of distal phalanges (feet) 2 / 7739
41
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
42
 (HPO:0008897) Postnatal growth retardation 113 / 7739
43
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
44
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
45
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
46
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
47
 (HPO:0001070) Mottled pigmentation 8 / 7739
48
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
49
 (HPO:0004334) Dermal atrophy 34 / 7739
50
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
51
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
52
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
53
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
54
 (HPO:0100679) Lack of skin elasticity Frequent [Orphanet] 29 / 7739
55
 (HPO:0003077) Hyperlipidemia 37 / 7739
56
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
57
 (HPO:0000833) Glucose intolerance 20 / 7739
58
 (HPO:0003074) Hyperglycemia 37 / 7739
59
 (HPO:0000855) Insulin resistance Occasional [Orphanet] 32 / 7739
60
 (HPO:0003761) Calcinosis 12 / 7739
61
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
62
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
63
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
64
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
65
 (HPO:0003635) Loss of subcutaneous adipose tissue in limbs 6 / 7739
66
 (HPO:0009125) Lipodystrophy 54 / 7739
67
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
68
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
69
 (HPO:0003621) Juvenile onset 105 / 7739
70
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
71
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: