Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ZAKI-GLEESON SYNDROME
MCHCCD
Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
Number of Symptoms 48
OrphanetNr: 329332
OMIM Id: 614407
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental 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:0000448) Prominent nose 56 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0004523) Long eyebrows 4 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0000337) Broad forehead 116 / 7739
6
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
7
 (HPO:0000400) Macrotia 108 / 7739
8
 (HPO:0000395) Prominent antihelix 6 / 7739
9
 (HPO:0002187) Intellectual disability, profound 44 / 7739
10
 (HPO:0001347) Hyperreflexia 363 / 7739
11
 (HPO:0001332) Dystonia 197 / 7739
12
 (HPO:0002459) Dysautonomia 34 / 7739
13
 (HPO:0002080) Intention tremor 44 / 7739
14
 (HPO:0002270) Abnormality of the autonomic nervous system 22 / 7739
15
 (HPO:0002078) Truncal ataxia 41 / 7739
16
 (HPO:0002271) Autonomic dysregulation 11 / 7739
17
 (HPO:0001344) Absent speech 57 / 7739
18
 (HPO:0100651) Type I diabetes mellitus 44 / 7739
19
 (HPO:0009183) Joint contracture of the 5th finger 8 / 7739
20
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
21
 (HPO:0001182) Tapered finger 93 / 7739
22
 (HPO:0001508) Failure to thrive 454 / 7739
23
 (HPO:0001510) Growth delay 295 / 7739
24
 (HPO:0001063) Acrocyanosis 56 / 7739
25
 (HPO:0001662) Bradycardia 41 / 7739
26
 (HPO:0001678) Atrioventricular block 59 / 7739
27
 (HPO:0000833) Glucose intolerance 20 / 7739
28
 (HPO:0001252) Muscular hypotonia 990 / 7739
29
 (HPO:0010547) Muscle flaccidity 466 / 7739
30
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
31
 (HPO:0001324) Muscle weakness 859 / 7739
32
 (OMIM) Second degree atrioventricular heart block 1 / 7739
33
 (OMIM) Long tapered fingers 3 / 7739
34
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
35
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
36
 (OMIM) Simplified gyral pattern 11 / 7739
37
 (OMIM) Unable to grasp objects 1 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Thin vermilion of the upper lip 1 / 7739
40
 (OMIM) Lack of independent ambulation 6 / 7739
41
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
42
 (OMIM) Skin mottling due to poor perfusion 1 / 7739
43
 (OMIM) [DEL]Autistic features 43 / 7739
44
 (OMIM) Crowded toes 1 / 7739
45
 (OMIM) Microcephaly, progressive, severe (-8 to -11 SD) 1 / 7739
46
 (HPO:0009879) Cortical gyral simplification 24 / 7739
47
 (OMIM) Thin, long eyebrows 1 / 7739
48
 (OMIM) Prolonged capillary refill 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Zaki et al. (2011) reported a consanguineous Egyptian family in which 3 sibs and a first cousin had a syndromic disorder apparent at birth and characterized by profound mental retardation, severe microcephaly (-8 to -11 SD), poor growth, ...