MACS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MACS SYNDROME
TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
RIN2 syndrome
Macrocephaly - alopecia - cutis laxa - scoliosis
RIN2 deficiency
Number of Symptoms 45
OrphanetNr: 217335
OMIM Id: 613075
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000815) Hypergonadotropic hypogonadism rare [HPO:skoehler] 48 / 7739
2
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
3
 (HPO:0000068) Urethral atresia 8 / 7739
4
 (HPO:0008661) Urethral stenosis rare [HPO:skoehler] 9 / 7739
5
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
6
 (HPO:0000280) Coarse facial features 189 / 7739
7
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
8
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
9
 (HPO:0012471) Thick vermilion border 115 / 7739
10
 (HPO:0002705) High, narrow palate 308 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
12
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
13
 (HPO:0000212) Gingival overgrowth 43 / 7739
14
 (HPO:0100540) Palpebral edema 31 / 7739
15
 (HPO:0001382) Joint hypermobility 231 / 7739
16
 (HPO:0001763) Pes planus 176 / 7739
17
 (HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
18
 (HPO:0000954) Single transverse palmar crease rare [HPO:skoehler] 162 / 7739
19
 (HPO:0002650) Scoliosis 705 / 7739
20
 (HPO:0000766) Abnormality of the sternum 31 / 7739
21
 (HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
22
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
23
 (HPO:0001539) Omphalocele 102 / 7739
24
 (HPO:0004325) Decreased body weight 492 / 7739
25
 (HPO:0004322) Short stature 1232 / 7739
26
 (HPO:0000978) Bruising susceptibility 123 / 7739
27
 (HPO:0008064) Ichthyosis rare [HPO:skoehler] 108 / 7739
28
 (HPO:0000974) Hyperextensible skin 59 / 7739
29
 (HPO:0008070) Sparse hair 94 / 7739
30
 (HPO:0001596) Alopecia 162 / 7739
31
 (HPO:0000973) Cutis laxa 43 / 7739
32
 (HPO:0003010) Prolonged bleeding time 88 / 7739
33
 (HPO:0002110) Bronchiectasis rare [HPO:skoehler] 73 / 7739
34
 (HPO:0001620) High pitched voice 32 / 7739
35
 (HPO:0001252) Muscular hypotonia 990 / 7739
36
 (HPO:0040079) Irregular dentition 7 / 7739
37
 (OMIM) Everted lips 3 / 7739
38
 (OMIM) Droopy eyelids 1 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (OMIM) Normal to mildly delayed development 1 / 7739
41
 (OMIM) Irregular dentition 6 / 7739
42
 (OMIM) Soft, redundant skin (especially facial) 1 / 7739
43
 (OMIM) Mild aortic dilatation (rare) 1 / 7739
44
 (OMIM) Multiple pigmented moles 1 / 7739
45
 (OMIM) Receding anterior hairline 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Basel-Vanagaite et al. (2009) described 3 patients, members of 2 related consanguineous Israeli-Arab families, with macrocephaly, downward-slanting palpebral fissures, puffy eyelids, mild ichthyosis, sagging cheeks, everted lower lip, retrognathia, gingival hyperplasia, abnormal position of the teeth, severe hyperlaxity, ...
Molecular genetics OMIM In 3 related patients with MACS syndrome, Basel-Vanagaite et al. (2009) identified homozygosity for a 1-bp deletion in the RIN2 gene (1731delC; 610222.0001). The mutation was not found in 182 ethnically matched control individuals. RIN2 protein was absent ...