Microcephaly-capillary malformation syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MICCAP
MIC-CAP syndrome
MIC-CM syndrome
Microcephaly-cutaneous capillary malformation syndrome
Number of Symptoms 73
OrphanetNr: 294016
OMIM Id: 614261
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25692795 [IBIS]
Age of onset: Neonatal
Infancy
29907875 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Capillary malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Genetic vascular anomaly
 -Rare genetic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0025016) Abnormal capillary morphology 29907875; 25692795; 23542699 IBIS 1 / 7739
2
 (HPO:0010185) Aplasia/Hypoplasia of the distal phalanges of the toes 23542699 IBIS 4 / 7739
3
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 23542699 IBIS 9 / 7739
4
 (HPO:0012469) Infantile spasms 23542699 IBIS 18 / 7739
5
 (HPO:0002187) Intellectual disability, profound 23542699 IBIS 44 / 7739
6
 (OMIM) Abnormal hippocampus 23542699 IBIS 2 / 7739
7
 (HPO:0006808) Cerebral hypomyelination 23542699 IBIS 16 / 7739
8
 (HPO:0002059) Cerebral atrophy 29907875; 23542699 IBIS 171 / 7739
9
 (HPO:0001231) Abnormality of the fingernails 25692795 IBIS 116 / 7739
10
 (HPO:0030033) Small finger 25692795 IBIS 2 / 7739
11
 (HPO:0000343) Long philtrum 25692795 IBIS 262 / 7739
12
 (HPO:0000154) Wide mouth 25692795 IBIS 137 / 7739
13
 (HPO:0000494) Downslanted palpebral fissures 25692795 IBIS 328 / 7739
14
 (MedDRA:10043816) Thyroxine decreased 25692795 IBIS 3 / 7739
15
 (HPO:0002925) Thyroid-stimulating hormone excess 25692795 IBIS 12 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment 25692795 IBIS 524 / 7739
17
 (HPO:0001831) Short toe 25692795 IBIS 52 / 7739
18
 (HPO:0006801) Hyperactive deep tendon reflexes 25692795 IBIS 21 / 7739
19
 (HPO:0008936) Muscular hypotonia of the trunk 25692795 IBIS 77 / 7739
20
 (HPO:0000400) Macrotia 25692795 IBIS 108 / 7739
21
 (HPO:0000369) Low-set ears 25692795 IBIS 372 / 7739
22
 (HPO:0000286) Epicanthus 25692795 IBIS 371 / 7739
23
 (HPO:0000348) High forehead 25692795 IBIS 157 / 7739
24
 (HPO:0000486) Strabismus 25692795 IBIS 576 / 7739
25
 (HPO:0002229) Alopecia areata 25692795 IBIS 5 / 7739
26
 (HPO:0002216) Premature graying of hair 25692795 IBIS 43 / 7739
27
 (HPO:0100874) Thick hair 25692795 IBIS 7 / 7739
28
 (HPO:0012444) Brain atrophy 25692795 IBIS 24 / 7739
29
 (HPO:0000648) Optic atrophy 25692795 IBIS 238 / 7739
30
 (HPO:0002133) Status epilepticus 25692795 IBIS 59 / 7739
31
 (HPO:0002901) Hypocalcemia 25692795 IBIS 56 / 7739
32
 (HPO:0040168) Focal seizures, afebril 25692795 IBIS 6 / 7739
33
 (HPO:0005306) Capillary hemangiomas 25692795 IBIS 8 / 7739
34
 (HPO:0002361) Psychomotor deterioration 25692795 IBIS 26 / 7739
35
 (HPO:0011451) Congenital microcephaly 29907875; 25692795 IBIS 6 / 7739
36
 (HPO:0001272) Cerebellar atrophy 29907875 IBIS 197 / 7739
37
 (HPO:0011968) Feeding difficulties 29907875 IBIS 240 / 7739
38
 (HPO:0002714) Downturned corners of mouth 29907875 IBIS 98 / 7739
39
 (HPO:0000508) Ptosis 29907875 IBIS 459 / 7739
40
 (HPO:0001999) Abnormal facial shape 29907875 IBIS 169 / 7739
41
 (HPO:0001250) Seizures 29907875; 25692795; 23542699 IBIS 1245 / 7739
42
 (HPO:0011344) Severe global developmental delay 29907875; 25692795; 23542699 IBIS 46 / 7739
43
 (HPO:0000316) Hypertelorism 29907875; 25692795 IBIS 644 / 7739
44
 (HPO:0000253) Progressive microcephaly 29907875; 25692795 IBIS 37 / 7739
45
 (HPO:0000076) Vesicoureteral reflux rare [HPO:skoehler] 94 / 7739
46
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
47
 (HPO:0000175) Cleft palate 349 / 7739
48
 (HPO:0000445) Wide nose 190 / 7739
49
 (HPO:0003196) Short nose 264 / 7739
50
 (HPO:0000340) Sloping forehead 86 / 7739
51
 (HPO:0000365) Hearing impairment 539 / 7739
52
 (HPO:0001336) Myoclonus 115 / 7739
53
 (HPO:0001285) Spastic tetraparesis 29 / 7739
54
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
55
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
56
 (HPO:0001508) Failure to thrive 454 / 7739
57
 (HPO:0001518) Small for gestational age 107 / 7739
58
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
59
 (HPO:0001792) Small nail 55 / 7739
60
 (HPO:0010721) Abnormal hair whorl 3 / 7739
61
 (HPO:0001655) Patent foramen ovale 31 / 7739
62
 (HPO:0001629) Ventricular septal defect 316 / 7739
63
 (HPO:0001667) Right ventricular hypertrophy 23 / 7739
64
 (HPO:0001631) Atria septal defect 274 / 7739
65
 (HPO:0001324) Muscle weakness 859 / 7739
66
 (HPO:0010547) Muscle flaccidity 466 / 7739
67
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
68
 (HPO:0001252) Muscular hypotonia 990 / 7739
69
 (MedDRA:10072883) Brachydactyly 153 / 7739
70
 (MedDRA:10058668) Clinodactyly 91 / 7739
71
 (HPO:0012448) Delayed myelination 51 / 7739
72
 (HPO:0030084) Clinodactyly 90 / 7739
73
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

STAMBP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb ...
Clinical Description OMIM Carter et al. (2011) reported 2 unrelated male infants with a similar congenital neurologic disorder. At birth, both were small for gestational age and were noted to have microcephaly and multiple capillary malformations of the skin affecting all areas ...
Molecular genetics OMIM In 10 patients from 9 families with MICCAP, McDonell et al. (2013) identified biallelic mutations in the STAMBP gene (see, e.g., 600247.0001-600247.0007). The mutation types included 6 missense variants, 2 nonsense mutations, 2 frameshift mutations, and 3 intronic mutations. ...