Antenatal multiminicore disease with arthrogryposis multiplex congenita

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIMINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS
MULTICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS
Number of Symptoms 34
OrphanetNr: 178148
OMIM Id: 607552
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiminicore myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
2
(HPO:0000470) Short neck 345 / 7739
3
(HPO:0000268) Dolichocephaly 144 / 7739
4
(HPO:0000426) Prominent nasal bridge 121 / 7739
5
(HPO:0000218) High palate 356 / 7739
6
(HPO:0000478) Abnormality of the eye 126 / 7739
7
(HPO:0000369) Low-set ears 372 / 7739
8
(HPO:0001270) Motor delay 322 / 7739
9
(HPO:0001591) Bell-shaped thorax 35 / 7739
10
(HPO:0002751) Kyphoscoliosis 131 / 7739
11
(HPO:0000954) Single transverse palmar crease 162 / 7739
12
(HPO:0002808) Kyphosis 289 / 7739
13
(HPO:0009466) Radial deviation of finger 101 / 7739
14
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
15
(HPO:0001558) Decreased fetal movement 74 / 7739
16
(HPO:0002792) Reduced vital capacity 17 / 7739
17
(HPO:0003560) Muscular dystrophy 88 / 7739
18
(HPO:0010547) Muscle flaccidity 466 / 7739
19
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
21
(HPO:0001252) Muscular hypotonia 990 / 7739
22
(HPO:0003327) Axial muscle weakness 10 / 7739
23
(HPO:0003324) Generalized muscle weakness 48 / 7739
24
(HPO:0001324) Muscle weakness 859 / 7739
25
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
26
(HPO:0003787) Type 1 and type 2 muscle fiber minicore regions 3 / 7739
27
(MedDRA:10058668) Clinodactyly 91 / 7739
28
(OMIM) Minicore regions are poorly defined and do not extend through entire fiber length 5 / 7739
29
(OMIM) Merosin-positive biopsy 5 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(OMIM) Dystrophic changes may be present 5 / 7739
32
(OMIM) Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 5 / 7739
33
(HPO:0030084) Clinodactyly 90 / 7739
34
(OMIM) Oblique palpebral fissures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiminicore disease (MmD) is a clinically heterogeneous condition in which several subgroups can be distinguished (see 255320 and 602771). General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or ...
Clinical Description OMIM Among 38 patients with histologically proven minicore myopathy, Ferreiro et al. (2000) reported 3 who had an antenatal-onset form with congenital generalized arthrogryposis, which the authors suggested was a distinct subtype of MmD. Other features included dolichocephaly, a ...