MCID: SHR065
MIFTS: 18

Short Stature with Microcephaly and Distinctive Facies

Categories: Genetic diseases

Aliases & Classifications for Short Stature with Microcephaly and Distinctive Facies

MalaCards integrated aliases for Short Stature with Microcephaly and Distinctive Facies:

Name: Short Stature with Microcephaly and Distinctive Facies 57 75 29 6
Stature, Short, with Microcephaly and Distinctive Facies 40
Ssmf 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two sibs each from unrelated saudi arabian families reported (last curated may 2014)
three out of 4 reported patients died (last curated may 2014)


HPO:

32
short stature with microcephaly and distinctive facies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature with Microcephaly and Distinctive Facies

UniProtKB/Swiss-Prot : 75 Short stature with microcephaly and distinctive facies: A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge.

MalaCards based summary : Short Stature with Microcephaly and Distinctive Facies, is also known as stature, short, with microcephaly and distinctive facies. An important gene associated with Short Stature with Microcephaly and Distinctive Facies is CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain). Related phenotypes are microcephaly and high forehead

Description from OMIM: 615789

Related Diseases for Short Stature with Microcephaly and Distinctive Facies

Symptoms & Phenotypes for Short Stature with Microcephaly and Distinctive Facies

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
high forehead

Head And Neck Head:
microcephaly

Head And Neck Nose:
anteverted nares
flat nasal bridge

Hematology:
anemia
anisopoikilocytosis

Skeletal Hands:
brachydactyly
hypoplastic terminal phalanges

Immunology:
recurrent infections

Skin Nails Hair Skin:
patchy hypopigmentation

Skeletal:
osteopenia

Skeletal Skull:
microcephaly

Growth Height:
short stature

Head And Neck Eyes:
telecanthus
decreased vision
mild proptosis
sparse eyebrows
albinoid fundus
more
Skeletal Feet:
talipes equinovarus
hypoplastic terminal phalanges

Neurologic Central Nervous System:
profound global developmental delay
bifrontal subdural hygroma
increased white matter signal
hypogenesis of corpus callosum

Growth Weight:
underweight


Clinical features from OMIM:

615789

Human phenotypes related to Short Stature with Microcephaly and Distinctive Facies:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 high forehead 32 HP:0000348
3 anteverted nares 32 HP:0000463
4 telecanthus 32 HP:0000506
5 proptosis 32 HP:0000520
6 sparse and thin eyebrow 32 HP:0000535
7 osteopenia 32 very rare (1%) HP:0000938
8 brachydactyly 32 HP:0001156
9 small for gestational age 32 very rare (1%) HP:0001518
10 talipes equinovarus 32 HP:0001762
11 anemia 32 HP:0001903
12 frontal bossing 32 HP:0002007
13 recurrent infections 32 HP:0002719
14 severe short stature 32 very rare (1%) HP:0003510
15 anisopoikilocytosis 32 HP:0004823
16 depressed nasal bridge 32 HP:0005280
17 spotty hypopigmentation 32 HP:0005590
18 short distal phalanx of finger 32 HP:0009882
19 profound global developmental delay 32 HP:0012736

Drugs & Therapeutics for Short Stature with Microcephaly and Distinctive Facies

Search Clinical Trials , NIH Clinical Center for Short Stature with Microcephaly and Distinctive Facies

Genetic Tests for Short Stature with Microcephaly and Distinctive Facies

Genetic tests related to Short Stature with Microcephaly and Distinctive Facies:

# Genetic test Affiliating Genes
1 Short Stature with Microcephaly and Distinctive Facies 29 CRIPT

Anatomical Context for Short Stature with Microcephaly and Distinctive Facies

Publications for Short Stature with Microcephaly and Distinctive Facies

Variations for Short Stature with Microcephaly and Distinctive Facies

UniProtKB/Swiss-Prot genetic disease variations for Short Stature with Microcephaly and Distinctive Facies:

75
# Symbol AA change Variation ID SNP ID
1 CRIPT p.Cys3Tyr VAR_078425 rs757078301

ClinVar genetic disease variations for Short Stature with Microcephaly and Distinctive Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh37 Chromosome 2, 46846816: 46846817
2 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh38 Chromosome 2, 46619677: 46619678
3 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh37 Chromosome 2, 46850906: 46850906
4 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh38 Chromosome 2, 46623767: 46623767
5 CRIPT NM_014171.5(CRIPT): c.8G> A (p.Cys3Tyr) single nucleotide variant Likely pathogenic rs757078301 GRCh37 Chromosome 2, 46844429: 46844429
6 CRIPT NM_014171.5(CRIPT): c.8G> A (p.Cys3Tyr) single nucleotide variant Likely pathogenic rs757078301 GRCh38 Chromosome 2, 46617290: 46617290
7 CRIPT NM_014171.5(CRIPT): c.-422_17-582del deletion Pathogenic GRCh38 Chromosome 2, 46616861: 46618191

Expression for Short Stature with Microcephaly and Distinctive Facies

Search GEO for disease gene expression data for Short Stature with Microcephaly and Distinctive Facies.

Pathways for Short Stature with Microcephaly and Distinctive Facies

GO Terms for Short Stature with Microcephaly and Distinctive Facies

Sources for Short Stature with Microcephaly and Distinctive Facies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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