MCHCCD
MCID: MCR311
MIFTS: 19

Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome (MCHCCD)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

MalaCards integrated aliases for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:

Name: Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 56 29 71
Microcephaly-Cerebellar Hypoplasia-Congenital Heart Conduction Defect Syndrome 58
Microcephaly-Cerebellar Hypoplasia-Cardiac Conduction Defect Syndrome 58
Zaki-Gleeson Syndrome 56
Mchccd 56

Characteristics:

Orphanet epidemiological data:

58
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)


HPO:

31
microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

OMIM : 56 The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (summary by Zaki et al., 2011). (614407)

MalaCards based summary : Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome, is also known as microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome, and has symptoms including action tremor and ataxia, truncal. Affiliated tissues include heart and skin, and related phenotypes are macrotia and failure to thrive

Related Diseases for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Symptoms & Phenotypes for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Human phenotypes related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 HP:0000400
2 failure to thrive 31 HP:0001508
3 acrocyanosis 31 HP:0001063
4 atrioventricular block 31 HP:0001678
5 thick lower lip vermilion 31 HP:0000179
6 absent speech 31 HP:0001344
7 hyperreflexia 31 HP:0001347
8 growth delay 31 HP:0001510
9 glucose intolerance 31 HP:0001952
10 clinodactyly of the 5th finger 31 HP:0004209
11 long philtrum 31 HP:0000343
12 broad forehead 31 HP:0000337
13 dystonia 31 HP:0001332
14 cerebellar hypoplasia 31 HP:0001321
15 tapered finger 31 HP:0001182
16 hypoplasia of the corpus callosum 31 HP:0002079
17 prominent nose 31 HP:0000448
18 intellectual disability, profound 31 HP:0002187
19 generalized hypotonia 31 HP:0001290
20 intention tremor 31 HP:0002080
21 joint contracture of the 5th finger 31 HP:0009183
22 truncal ataxia 31 HP:0002078
23 bradycardia 31 HP:0001662
24 progressive microcephaly 31 HP:0000253
25 prominent antihelix 31 HP:0000395
26 long eyebrows 31 HP:0004523
27 impaired glucose tolerance 31 HP:0040270
28 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
poor growth

Neurologic Central Nervous System:
absent speech
hyperreflexia
dystonia
cerebellar hypoplasia
intention tremor
more
Head And Neck Nose:
prominent nose

Head And Neck Ears:
prominent antihelix
large ears

Skeletal Hands:
fifth finger clinodactyly
fifth finger camptodactyly
long tapered fingers

Head And Neck Mouth:
prominent lower lip
thin vermilion of the upper lip

Head And Neck Eyes:
thin, long eyebrows

Cardiovascular Vascular:
vasomotor instability

Skin Nails Hair Skin:
acrocyanosis
skin mottling due to poor perfusion
prolonged capillary refill

Head And Neck Face:
long philtrum
broad forehead

Cardiovascular Heart:
bradycardia
second degree atrioventricular heart block

Endocrine Features:
impaired glucose tolerance
diabetes mellitus, insulin-dependent (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Head:
microcephaly, progressive, severe (-8 to -11 sd)

Skin Nails Hair Hair:
thin, long eyebrows

Skeletal Feet:
crowded toes

Clinical features from OMIM:

614407

UMLS symptoms related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:


action tremor, ataxia, truncal

Drugs & Therapeutics for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome

Genetic Tests for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Genetic tests related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 29

Anatomical Context for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

MalaCards organs/tissues related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:

40
Heart, Skin

Publications for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Articles related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:

# Title Authors PMID Year
1
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. 56
22002884 2011

Variations for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Expression for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Search GEO for disease gene expression data for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome.

Pathways for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

GO Terms for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

Sources for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...

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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