MCID: MCR274
MIFTS: 20

Microcephalic Primordial Dwarfism, Montreal Type

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Microcephalic Primordial Dwarfism, Montreal Type

MalaCards integrated aliases for Microcephalic Primordial Dwarfism, Montreal Type:

Name: Microcephalic Primordial Dwarfism, Montreal Type 56 52 58
Bird-Headed Dwarfism, Montreal Type 56 58
Premature Senility, Premature Graying and Loss of Scalp Hair and Wrinkled Skin of the Palms 52
Bird-Headed Dwarfism with Features of Premature Senility 52

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism, montreal type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microcephalic primordial dwarfism, montreal type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microcephalic Primordial Dwarfism, Montreal Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2617 Definition A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly , narrow face with flat cheeks, ptosis , prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate , micrognathia ), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability . Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. Visit the Orphanet disease page for more resources.

MalaCards based summary : Microcephalic Primordial Dwarfism, Montreal Type, also known as bird-headed dwarfism, montreal type, is related to dwarfism. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and hyperreflexia

More information from OMIM: 210700

Related Diseases for Microcephalic Primordial Dwarfism, Montreal Type

Diseases related to Microcephalic Primordial Dwarfism, Montreal Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.3

Symptoms & Phenotypes for Microcephalic Primordial Dwarfism, Montreal Type

Human phenotypes related to Microcephalic Primordial Dwarfism, Montreal Type:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
5 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
6 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
7 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
8 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
9 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
10 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
13 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
14 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
15 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
16 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
17 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
18 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
19 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
20 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
21 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
22 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
23 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
24 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
25 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
26 shagreen patch 58 31 hallmark (90%) Very frequent (99-80%) HP:0009721
27 congenital pyloric atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004399
28 alopecia of scalp 31 hallmark (90%) HP:0002293
29 retrognathia 31 HP:0000278
30 abnormal hair quantity 58 Very frequent (99-80%)
31 narrow face 31 HP:0000275
32 prematurely aged appearance 58 Very frequent (99-80%)
33 scalp hair loss 58 Very frequent (99-80%)
34 abnormally large globe 31 HP:0001090
35 excessive wrinkling of palmar skin 31 HP:0007605
36 cerebral hypoplasia 31 HP:0006872

Symptoms via clinical synopsis from OMIM:

56
Eyes:
ptosis
large

Hair:
scalp hair loss
premature graying

Growth:
dwarfism, birth weight normal
premature senility

Head:
small

Face:
narrow

G U:
cryptorchidism

Neuro:
brain very small
mental retardation

Skin:
redundant, wrinkled skin of palms

Nose:
beaklike protrusion

Mandible:
receding

Clinical features from OMIM:

210700

Drugs & Therapeutics for Microcephalic Primordial Dwarfism, Montreal Type

Search Clinical Trials , NIH Clinical Center for Microcephalic Primordial Dwarfism, Montreal Type

Genetic Tests for Microcephalic Primordial Dwarfism, Montreal Type

Anatomical Context for Microcephalic Primordial Dwarfism, Montreal Type

MalaCards organs/tissues related to Microcephalic Primordial Dwarfism, Montreal Type:

40
Skin, Bone, Brain

Publications for Microcephalic Primordial Dwarfism, Montreal Type

Articles related to Microcephalic Primordial Dwarfism, Montreal Type:

# Title Authors PMID Year
1
A form of bird-headed dwarfism with features of premature senility. 61 56
5458566 1970

Variations for Microcephalic Primordial Dwarfism, Montreal Type

Expression for Microcephalic Primordial Dwarfism, Montreal Type

Search GEO for disease gene expression data for Microcephalic Primordial Dwarfism, Montreal Type.

Pathways for Microcephalic Primordial Dwarfism, Montreal Type

GO Terms for Microcephalic Primordial Dwarfism, Montreal Type

Sources for Microcephalic Primordial Dwarfism, Montreal Type

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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