Megalencephaly-capillary malformation-polymicrogyria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
MACROCEPHALY-CAPILLARY MALFORMATION
MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
MCM
MCAP
MCMTC
Macrocephaly-capillary malformation syndrome
Megalencephaly - cutis marmorata telangiectatica congenita
Macrocephaly - cutis marmorata telangiectatica congenita
megalencephaly-capillary malformation syndrome
Number of Symptoms 87
OrphanetNr: 60040
OMIM Id: 602501
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 170 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Capillary malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Genetic skin vascular disease
 -Rare genetic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Skin vascular disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002667) Nephroblastoma 30 / 7739
2
 (HPO:0004481) Progressive macrocephaly 8 / 7739
3
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
4
 (HPO:0000568) Microphthalmia 183 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
9
 (HPO:0000337) Broad forehead 116 / 7739
10
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
11
 (HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
12
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
13
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
14
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
15
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
16
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
17
 (HPO:0000319) Smooth philtrum 72 / 7739
18
 (HPO:0009748) Large earlobe 27 / 7739
19
 (HPO:0002858) Meningioma 22 / 7739
20
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0001250) Seizures 1245 / 7739
24
 (HPO:0010442) Polydactyly 69 / 7739
25
 (HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
26
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
27
 (HPO:0001388) Joint laxity 117 / 7739
28
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
29
 (HPO:0001159) Syndactyly 140 / 7739
30
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
31
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
32
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
33
 (HPO:0001548) Overgrowth 27 / 7739
34
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
35
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
36
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
37
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
38
 (HPO:0000965) Cutis marmorata Frequent [Orphanet] 46 / 7739
39
 (HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
40
 (HPO:0001629) Ventricular septal defect 316 / 7739
41
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
42
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
43
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
44
 (HPO:0001909) Leukemia 46 / 7739
45
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
48
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
49
 (HPO:0001324) Muscle weakness 859 / 7739
50
 (HPO:0100790) Hernia 9 / 7739
51
 (OMIM) Cortical dysgenesis 1 / 7739
52
 (OMIM) Cutaneous vascular malformations 2 / 7739
53
 (OMIM) Increased birth weight 6 / 7739
54
 (OMIM) Cavum Vergae 4 / 7739
55
 (OMIM) Patchy, reticular stains 1 / 7739
56
 (OMIM) Increased birth length 3 / 7739
57
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
58
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
59
 (OMIM) Cerebellar tonsil herniation 1 / 7739
60
 (OMIM) Thick, loose, doughy skin 1 / 7739
61
 (HPO:0002126) Polymicrogyria 64 / 7739
62
 (OMIM) Hemihyperplasia 1 / 7739
63
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
64
 (OMIM) Large cerebellum, progressive 1 / 7739
65
 (OMIM) Unilateral microphthalmia 1 / 7739
66
 (OMIM) Dilated venous sinuses 1 / 7739
67
 (OMIM) Thickened subcutaneous tissue 1 / 7739
68
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
69
 (OMIM) Macrocephaly, progressive in infancy 1 / 7739
70
 (HPO:0003745) Sporadic 131 / 7739
71
 (OMIM) Thickened optic nerve sheath 1 / 7739
72
 (OMIM) Narrow arched palate 2 / 7739
73
 (OMIM) Increased risk of Wilms tumor 2 / 7739
74
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
75
 (OMIM) Increased risk of meningioma 1 / 7739
76
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
77
 (OMIM) Crowding of the posterior fossa 1 / 7739
78
 (OMIM) Somatic overgrowth, asymmetric 1 / 7739
79
 (OMIM) MRI shows brain asymmetry 1 / 7739
80
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
81
 (OMIM) Increased risk of leukemia 3 / 7739
82
 (HPO:0001428) Somatic mutation 100 / 7739
83
 (OMIM) Thickened corpus callosum 1 / 7739
84
 (OMIM) White matter signal abnormalities in the deep white matter and periventricular regions 1 / 7739
85
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
86
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
87
 (HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the ...
Diagnosis OMIM Franceschini et al. (2000) reported 2 patients with features consistent with a diagnosis of MCMTC, only one of whom had typical cutis marmorata when examined at age 4 months. Based on these cases and their review of the ...
Clinical Description OMIM Moore et al. (1997) described 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. They proposed that these children had a distinct disorder, megalencephaly-cutis marmorata telangiectatica congenita (MCMTC), with the features of ...
Molecular genetics OMIM Riviere et al. (2012) conducted exome sequencing in an individual with MCAP and his parents and performed an analysis of de novo mutations in this trio by including the raw variants that did not meet their initial hard-filtering ...