SSMF
MCID: SHR065
MIFTS: 26

Short Stature with Microcephaly and Distinctive Facies (SSMF)

Categories: Eye diseases, 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 58 76 30 6
Stature, Short, with Microcephaly and Distinctive Facies 41
Ssmcf 58
Ssmf 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three out of 5 reported patients died (last curated january 2019)


HPO:

33
short stature with microcephaly and distinctive facies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature with Microcephaly and Distinctive Facies

OMIM : 58 Short stature with microcephaly and distinctive facies is characterized by pre- or postnatal growth retardation, frontal bossing, high forehead, sparse hair and eyebrows, and telecanthus. Patients also show skin dyspigmentation, with hyper- and/or hypopigmented areas (Leduc et al., 2016). (615789)

MalaCards based summary : Short Stature with Microcephaly and Distinctive Facies, also known as stature, short, with microcephaly and distinctive facies, is related to primary amebic meningoencephalitis and weaver syndrome. An important gene associated with Short Stature with Microcephaly and Distinctive Facies is CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain). Affiliated tissues include skin, bone and eye, and related phenotypes are osteopenia and microcephaly

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Short Stature with Microcephaly and Distinctive Facies

Diseases related to Short Stature with Microcephaly and Distinctive Facies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary amebic meningoencephalitis 10.6
2 weaver syndrome 10.1
3 wrinkly skin syndrome 10.1
4 welander distal myopathy 10.1

Symptoms & Phenotypes for Short Stature with Microcephaly and Distinctive Facies

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

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 very rare (1%) HP:0000938
2 microcephaly 33 very rare (1%) HP:0000252
3 severe short stature 33 very rare (1%) HP:0003510
4 small for gestational age 33 very rare (1%) HP:0001518
5 frontal bossing 33 HP:0002007
6 depressed nasal bridge 33 HP:0005280
7 anteverted nares 33 HP:0000463
8 anemia 33 HP:0001903
9 talipes equinovarus 33 HP:0001762
10 telecanthus 33 HP:0000506
11 focal impaired awareness seizure 33 HP:0002384
12 brachydactyly 33 HP:0001156
13 recurrent infections 33 HP:0002719
14 high forehead 33 HP:0000348
15 proptosis 33 HP:0000520
16 short distal phalanx of finger 33 HP:0009882
17 microretrognathia 33 HP:0000308
18 proximal placement of thumb 33 HP:0009623
19 spotty hyperpigmentation 33 HP:0005585
20 profound global developmental delay 33 HP:0012736
21 anisopoikilocytosis 33 HP:0004823
22 spotty hypopigmentation 33 HP:0005590
23 high myopia 33 HP:0011003
24 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
high forehead
retromicrognathia
long flat philtrum

Head And Neck Head:
microcephaly

Head And Neck Nose:
anteverted nares
flat nasal bridge

Hematology:
anemia
anisopoikilocytosis

Head And Neck Eyes:
telecanthus
decreased vision
mild proptosis
sparse eyebrows
high myopia
more
Immunology:
recurrent infections

Skin Nails Hair Skin:
patchy hyperpigmentation
patchy hypopigmentation
hyperkeratotic follicular papules on cheeks and arms

Skeletal:
osteopenia

Skeletal Skull:
microcephaly

Growth Height:
short stature

Skeletal Feet:
talipes equinovarus
hypoplastic terminal phalanges
bilateral 4-5 syndactyly
bilateral hindfoot valgus
bilateral forefoot adduction
more
Skeletal Hands:
brachydactyly
proximally placed thumbs
hypoplastic terminal phalanges

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

Growth Weight:
underweight

Clinical features from OMIM:

615789

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 30 CRIPT

Anatomical Context for Short Stature with Microcephaly and Distinctive Facies

MalaCards organs/tissues related to Short Stature with Microcephaly and Distinctive Facies:

42
Skin, Bone, Eye

Publications for Short Stature with Microcephaly and Distinctive Facies

Articles related to Short Stature with Microcephaly and Distinctive Facies:

# Title Authors Year
1
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. ( 27250922 )
2016
2
Genomic analysis of primordial dwarfism reveals novel disease genes. ( 24389050 )
2014

Variations for Short Stature with Microcephaly and Distinctive Facies

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

76
# 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
8 CRIPT NM_014171.5(CRIPT): c.-422_17-582del deletion Pathogenic GRCh37 Chromosome 2, 46844000: 46845330
9 CRIPT GRCh37/hg19 2p21(chr2: 46844284-46844565) copy number loss Pathogenic GRCh37 Chromosome 2, 46844284: 46844565

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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