MCID: MCR309
MIFTS: 24

Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia

Categories: Blood diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly with Chemotactic Defect and Transient...

MalaCards integrated aliases for Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia:

Name: Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 56 52
Say Barber Miller Syndrome 52 71
Microcephaly-Hypogammaglobulinemia-Abnormal Immunity Syndrome 58
Microcephaly Hypogammaglobulinemia Abnormal Immunity 52
Say-Barber-Miller Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
say-barber-miller syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephaly with chemotactic defect and transient hypogammaglobulinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Microcephaly with Chemotactic Defect and Transient...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3132 Definition Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly , developmental delay , and severe postnatal growth retardation. Epidemiology It has been reported in two brothers born to normal parents. Clinical description Additional features include hypogonadism , flexion contractures , hypoplastic patellae, scoliosis , eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia . Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. Prognosis The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted. Visit the Orphanet disease page for more resources.

MalaCards based summary : Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia, also known as say barber miller syndrome, is related to postaxial acrofacial dysostosis and extrapulmonary tuberculosis. Affiliated tissues include eye, t cells and neutrophil, and related phenotypes are global developmental delay and abnormal facial shape

More information from OMIM: 251240

Related Diseases for Microcephaly with Chemotactic Defect and Transient...

Diseases related to Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 postaxial acrofacial dysostosis 10.3
2 extrapulmonary tuberculosis 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Microcephaly with Chemotactic Defect and Transient...

Human phenotypes related to Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 transient hypogammaglobulinemia of infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0005432
5 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
10 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
11 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
12 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
13 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
14 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
15 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
16 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
17 panniculitis 58 31 frequent (33%) Frequent (79-30%) HP:0012490
18 patellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003065
19 multiple epiphyseal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002654
20 erythema nodosum 58 31 frequent (33%) Frequent (79-30%) HP:0012219
21 recurrent patellar dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0005001
22 impaired neutrophil chemotaxis 58 31 frequent (33%) Frequent (79-30%) HP:0040238
23 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
24 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
25 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
26 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
27 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
28 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
29 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
30 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
31 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
32 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
33 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
34 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
35 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
36 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
37 misalignment of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000692
38 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
39 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
40 hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001007
41 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
42 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
43 talipes equinovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001772
44 decreased circulating igg level 58 31 occasional (7.5%) Occasional (29-5%) HP:0004315
45 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
46 abnormal t cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002843
47 fetal fifth finger clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011431
48 thoracic kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005659
49 generalized hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007034
50 lingual dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031008

Symptoms via clinical synopsis from OMIM:

56
Skel:
scoliosis
flexion contractures
hypoplastic patellae

Immunology:
recurrent infections
newborn gammaglobulin deficiency
defective chemotaxis

H E E N T:
microcephaly
micrognathia
sloping forehead
beaked nose
large ears
more
G U:
hypogonadism

Clinical features from OMIM:

251240

Drugs & Therapeutics for Microcephaly with Chemotactic Defect and Transient...

Search Clinical Trials , NIH Clinical Center for Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia

Genetic Tests for Microcephaly with Chemotactic Defect and Transient...

Anatomical Context for Microcephaly with Chemotactic Defect and Transient...

MalaCards organs/tissues related to Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia:

40
Eye, T Cells, Neutrophil

Publications for Microcephaly with Chemotactic Defect and Transient...

Articles related to Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia:

# Title Authors PMID Year
1
'Novel' immunodeficiency syndrome may be a previously described entity. 56
10733244 2000
2
Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome. 56
10189087 1999
3
Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al. 56
8728697 1996
4
Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. 56
3746838 1986
5
[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]. 61
19108857 2009

Variations for Microcephaly with Chemotactic Defect and Transient...

Expression for Microcephaly with Chemotactic Defect and Transient...

Search GEO for disease gene expression data for Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia.

Pathways for Microcephaly with Chemotactic Defect and Transient...

GO Terms for Microcephaly with Chemotactic Defect and Transient...

Sources for Microcephaly with Chemotactic Defect and Transient...

3 CDC
7 CNVD
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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
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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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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