Mandibuloacral dysplasia with type A lipodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA
MADA
Number of Symptoms 61
OrphanetNr: 90153
OMIM Id: 248370
ICD-10: Q87.5
UMLs:
MeSH: C535705
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Mandibuloacral dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
2
(HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
3
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
4
(HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
5
(HPO:0006480) Premature loss of teeth 23 / 7739
6
(HPO:0000293) Full cheeks 85 / 7739
7
(HPO:0000218) High palate 356 / 7739
8
(HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
9
(HPO:0000320) Bird-like facies 4 / 7739
10
(HPO:0000678) Dental crowding 65 / 7739
11
(HPO:0000418) Narrow nasal ridge 15 / 7739
12
(HPO:0000347) Micrognathia 426 / 7739
13
(HPO:0000685) Hypoplasia of teeth 12 / 7739
14
(HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
15
(HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
16
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
17
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
18
(HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
19
(HPO:0000842) Hyperinsulinemia 39 / 7739
20
(HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
21
(HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
22
(HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
23
(HPO:0000905) Progressive clavicular acroosteolysis 4 / 7739
24
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
25
(HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
26
(HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
27
(HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] 141 / 7739
28
(HPO:0000894) Short clavicles 30 / 7739
29
(HPO:0001371) Flexion contracture 220 / 7739
30
(HPO:0002763) Abnormal cartilage morphology Occasional [Orphanet] 15 / 7739
31
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
(HPO:0008897) Postnatal growth retardation 113 / 7739
33
(HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
34
(HPO:0004334) Dermal atrophy 34 / 7739
35
(HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
36
(HPO:0000963) Thin skin 96 / 7739
37
(HPO:0100679) Lack of skin elasticity Occasional [Orphanet] 29 / 7739
38
(HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
39
(HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
40
(HPO:0001070) Mottled pigmentation 8 / 7739
41
(HPO:0000855) Insulin resistance Frequent [Orphanet] 32 / 7739
42
(HPO:0003077) Hyperlipidemia 37 / 7739
43
(HPO:0000833) Glucose intolerance 20 / 7739
44
(HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
45
(HPO:0003074) Hyperglycemia 37 / 7739
46
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
47
(HPO:0003011) Abnormality of the musculature Occasional [Orphanet] 47 / 7739
48
(HPO:0003635) Loss of subcutaneous adipose tissue in limbs 6 / 7739
49
(OMIM) Normal or increased truncal adipose tissue 1 / 7739
50
(OMIM) Soft tissue or tendinous calcinosis may occur 1 / 7739
51
(OMIM) Alopecia, partial 4 / 7739
52
(OMIM) Beak nose 1 / 7739
53
(OMIM) Normal or increased facial adipose tissue 3 / 7739
54
(MedDRA:10054008) Delayed closure of cranial sutures 2 / 7739
55
(OMIM) Sparse, lusterless scalp hair 1 / 7739
56
(OMIM) Pointed nose 2 / 7739
57
(OMIM) Normal or increased adipose tissue around the neck 3 / 7739
58
(OMIM) Absence of tongue papillae 1 / 7739
59
(MedDRA:10053857) Partial lipodystrophy 8 / 7739
60
(OMIM) Soft tissue calcinosis 1 / 7739
61
(OMIM) Fingertip rounding 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy ...
Clinical Description OMIM Young et al. (1971) described 2 teenaged males with a hypoplastic mandible producing severe dental crowding, acroosteolysis, stiff joints, atrophy of the skin over hands and feet, and hypoplastic clavicles. The boys had an 'Andy Gump' appearance. Persistently ...
Molecular genetics OMIM In 9 affected patients from 5 consanguineous Italian families with MAD, Novelli et al. (2002) identified a homozygous mutation in the LMNA gene (R527H; 150330.0021). The authors noted that LMNA also causes several distinct disorders, including Dunnigan type ...