SSMCF
MCID: SHR065
MIFTS: 23

Short Stature with Microcephaly and Distinctive Facies (SSMCF)

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 57 72 29 6
Ssmcf 57 72
Stature, Short, with Microcephaly and Distinctive Facies 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
short stature with microcephaly and distinctive facies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature with Microcephaly and Distinctive Facies

UniProtKB/Swiss-Prot : 72 Short stature with microcephaly and distinctive facies: An autosomal recessive 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 ssmcf. An important gene associated with Short Stature with Microcephaly and Distinctive Facies is CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain). Affiliated tissues include eye, and related phenotypes are osteopenia and microcephaly

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Short Stature with Microcephaly and Distinctive Facies

Symptoms & Phenotypes for Short Stature with Microcephaly and Distinctive Facies

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 very rare (1%) HP:0000938
2 microcephaly 31 very rare (1%) HP:0000252
3 severe short stature 31 very rare (1%) HP:0003510
4 small for gestational age 31 very rare (1%) HP:0001518
5 frontal bossing 31 HP:0002007
6 nystagmus 31 HP:0000639
7 depressed nasal bridge 31 HP:0005280
8 anteverted nares 31 HP:0000463
9 anemia 31 HP:0001903
10 talipes equinovarus 31 HP:0001762
11 brachydactyly 31 HP:0001156
12 proptosis 31 HP:0000520
13 telecanthus 31 HP:0000506
14 high forehead 31 HP:0000348
15 short distal phalanx of finger 31 HP:0009882
16 microretrognathia 31 HP:0000308
17 proximal placement of thumb 31 HP:0009623
18 profound global developmental delay 31 HP:0012736
19 focal impaired awareness seizure 31 HP:0002384
20 recurrent infections 31 HP:0002719
21 high myopia 31 HP:0011003
22 exotropia 31 HP:0000577
23 anisopoikilocytosis 31 HP:0004823
24 spotty hypopigmentation 31 HP:0005590
25 spotty hyperpigmentation 31 HP:0005585
26 syndactyly 31 HP:0001159
27 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

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

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

Growth Weight:
underweight

Clinical features from OMIM®:

615789 (Updated 20-May-2021)

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

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

40
Eye

Publications for Short Stature with Microcephaly and Distinctive Facies

Articles related to Short Stature with Microcephaly and Distinctive Facies:

# Title Authors PMID Year
1
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. 57 6
27250922 2016
2
Genomic analysis of primordial dwarfism reveals novel disease genes. 57 6
24389050 2014

Variations for Short Stature with Microcephaly and Distinctive Facies

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRIPT NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) Insertion Pathogenic 127249 rs587779356 GRCh37: 2:46846815-46846816
GRCh38: 2:46619676-46619677
2 CRIPT NM_014171.6(CRIPT):c.141del (p.Phe47fs) Deletion Pathogenic 127250 rs587779348 GRCh37: 2:46850904-46850904
GRCh38: 2:46623765-46623765
3 CRIPT GRCh37/hg19 2p21(chr2:46844284-46844565) copy number loss Pathogenic 625543 GRCh37: 2:46844284-46844565
GRCh38:
4 CRIPT NM_014171.6(CRIPT):c.132del (p.Ala45fs) Deletion Pathogenic 976761 GRCh37: 2:46846809-46846809
GRCh38: 2:46619670-46619670
5 overlap with 2 genes NM_014171.6(CRIPT):c.0_17-582del Deletion Pathogenic 221619 GRCh37: 2:46844000-46845330
GRCh38: 2:46616861-46618191
6 CRIPT NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) SNV Likely pathogenic 221618 rs757078301 GRCh37: 2:46844429-46844429
GRCh38: 2:46617290-46617290
7 CRIPT NM_014171.6(CRIPT):c.242-19A>T SNV Uncertain significance 1029251 GRCh37: 2:46851283-46851283
GRCh38: 2:46624144-46624144

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

72
# Symbol AA change Variation ID SNP ID
1 CRIPT p.Cys3Tyr VAR_078425 rs757078301

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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