MCID: MLT146
MIFTS: 20

Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multicore Myopathy with Mental Retardation, Short Stature, and...

MalaCards integrated aliases for Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism:

Name: Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 56 52
Chudley-Rozdilsky Syndrome 58 71
Chudley Syndrome 56 52
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome 58
Chudley Rozdilsky Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
sexual infantilism


HPO:

31
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Multicore Myopathy with Mental Retardation, Short Stature, and...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3068 Definition Intellectual disability -myopathy-short stature -endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis , and severe lumbar lordosis ), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism ). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Visit the Orphanet disease page for more resources.

MalaCards based summary : Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism, also known as chudley-rozdilsky syndrome, is related to endocardial fibroelastosis, and has symptoms including facial paresis Affiliated tissues include pituitary, bone and heart, and related phenotypes are delayed skeletal maturation and craniofacial hyperostosis

More information from OMIM: 253320

Related Diseases for Multicore Myopathy with Mental Retardation, Short Stature, and...

Diseases related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endocardial fibroelastosis 10.0

Symptoms & Phenotypes for Multicore Myopathy with Mental Retardation, Short Stature, and...

Human phenotypes related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
7 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
8 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
9 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
10 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
11 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
12 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
13 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
14 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
15 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
16 ophthalmoparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000597
17 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
18 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
19 abnormal muscle fiber morphology 31 hallmark (90%) HP:0004303
20 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
21 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
22 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
23 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
24 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
25 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
26 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
27 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
28 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
29 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
30 myopathy 31 HP:0003198
31 abnormality of metabolism/homeostasis 31 HP:0001939
32 malformation of the heart and great vessels 58 Occasional (29-5%)
33 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
34 intellectual disability, progressive 31 HP:0006887
35 abnormality of muscle fibers 58 Very frequent (99-80%)
36 abnormality of the pinna 58 Occasional (29-5%)
37 lumbar hyperlordosis 31 HP:0002938

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Genitourinary External Genitalia Male:
hypogonadotropic hypogonadism

Endocrine Features:
hypogonadotropic hypogonadism

Head And Neck Face:
facial weakness

Skeletal Spine:
lumbar lordosis, exaggerated

Head And Neck Eyes:
ptosis

Genitourinary Internal Genitalia Female:
hypogonadotropic hypogonadism

Neurologic Central Nervous System:
mental retardation, severe
small sella

Muscle Soft Tissue:
mild muscle weakness
internal nuclei
congenital, nonprogressive myopathy
variation in fibrodiameter seen on muscle biopsy
atrophy of type i fibers
more
Laboratory Abnormalities:
normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

Clinical features from OMIM:

253320

UMLS symptoms related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism:


facial paresis

Drugs & Therapeutics for Multicore Myopathy with Mental Retardation, Short Stature, and...

Search Clinical Trials , NIH Clinical Center for Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism

Genetic Tests for Multicore Myopathy with Mental Retardation, Short Stature, and...

Anatomical Context for Multicore Myopathy with Mental Retardation, Short Stature, and...

MalaCards organs/tissues related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism:

40
Pituitary, Bone, Heart, Skeletal Muscle

Publications for Multicore Myopathy with Mental Retardation, Short Stature, and...

Articles related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism:

# Title Authors PMID Year
1
Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. 56
3970066 1985
2
Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs. 61
15768861 2004

Variations for Multicore Myopathy with Mental Retardation, Short Stature, and...

Expression for Multicore Myopathy with Mental Retardation, Short Stature, and...

Search GEO for disease gene expression data for Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism.

Pathways for Multicore Myopathy with Mental Retardation, Short Stature, and...

GO Terms for Multicore Myopathy with Mental Retardation, Short Stature, and...

Sources for Multicore Myopathy with Mental Retardation, Short Stature, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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