Aliases & Classifications for Frias Syndrome

MalaCards integrated aliases for Frias Syndrome:

Name: Frias Syndrome 57 53 29 73
Growth Deficiency, Facial Anomalies, and Brachydactyly 57 53
Chromosome 14q22 Deletion Syndrome 57 53
14q22-Q23 Microdeletion Syndrome 53
14q22q23 Microdeletion Syndrome 53
Monosomy 14q22-Q23 53
Monosomy 14q22q23 53
Del(14)(q22q23) 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
frias syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frias Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 264200Disease definition14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.Visit the Orphanet disease page for more resources.

MalaCards based summary : Frias Syndrome, also known as growth deficiency, facial anomalies, and brachydactyly, is related to martinez-frias syndrome and opitz-gbbb syndrome. An important gene associated with Frias Syndrome is FRIASS (Frias Syndrome). Affiliated tissues include pituitary and skin, and related phenotypes are malar flattening and hypertelorism

OMIM : 57 Frias syndrome is characterized by mild exophthalmia, palpebral ptosis, hypertelorism, short square hands with minimal proximal syndactyly between the second and third fingers, small broad great toes, and short stature. Some patients may exhibit bilateral pedunculated postminimi (summary by Martinez-Fernandez et al., 2014). (609640)

Related Diseases for Frias Syndrome

Diseases related to Frias Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 martinez-frias syndrome 12.5
2 opitz-gbbb syndrome 11.8
3 opitz gbbb syndrome, type ii 11.7
4 mitchell-riley syndrome 11.1
5 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 11.1
6 brachydactyly 10.1
7 hemochromatosis, neonatal 10.0
8 diabetes mellitus 10.0
9 intestinal atresia 10.0

Graphical network of the top 20 diseases related to Frias Syndrome:



Diseases related to Frias Syndrome

Symptoms & Phenotypes for Frias Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
ptosis, bilateral
exophthalmos, mild

Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
psychomotor delay
segmental callosal hypoplasia, mild
ventricular enlargement, mild

Chest Diaphragm:
right diaphragmatic hernia (rare)

Skeletal Feet:
short broad halluces

Growth Height:
short stature

Head And Neck Ears:
posteriorly rotated ears
cup-shaped ears
hearing loss, unilateral, mild

Head And Neck Teeth:
absence of upper and lower lateral incisors
large upper right central incisor
overlapping left central incisor

Skeletal Hands:
pedunculated postminimi, bilateral


Clinical features from OMIM:

609640

Human phenotypes related to Frias Syndrome:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 frequent (33%) HP:0000272
2 hypertelorism 32 hallmark (90%) HP:0000316
3 agenesis of corpus callosum 32 frequent (33%) HP:0001274
4 finger syndactyly 32 occasional (7.5%) HP:0006101
5 ptosis 32 hallmark (90%) HP:0000508
6 muscular hypotonia 32 hallmark (90%) HP:0001252
7 hearing impairment 32 occasional (7.5%) HP:0000365
8 global developmental delay 32 hallmark (90%) HP:0001263
9 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
10 short stature 32 hallmark (90%) HP:0004322
11 brachycephaly 32 frequent (33%) HP:0000248
12 micrognathia 32 frequent (33%) HP:0000347
13 short palm 32 occasional (7.5%) HP:0004279
14 epicanthus 32 hallmark (90%) HP:0000286
15 short foot 32 occasional (7.5%) HP:0001773
16 cryptorchidism 32 hallmark (90%) HP:0000028
17 short 4th metacarpal 32 occasional (7.5%) HP:0010044
18 short 5th metacarpal 32 occasional (7.5%) HP:0010047
19 ventriculomegaly 32 frequent (33%) HP:0002119
20 underdeveloped nasal alae 32 frequent (33%) HP:0000430
21 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
22 diabetes insipidus 32 frequent (33%) HP:0000873
23 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
24 downturned corners of mouth 32 hallmark (90%) HP:0002714
25 bilateral single transverse palmar creases 32 occasional (7.5%) HP:0007598
26 renal hypoplasia 32 occasional (7.5%) HP:0000089
27 high forehead 32 hallmark (90%) HP:0000348
28 proptosis 32 hallmark (90%) HP:0000520
29 decreased fetal movement 32 occasional (7.5%) HP:0001558
30 preauricular skin tag 32 hallmark (90%) HP:0000384
31 toe syndactyly 32 occasional (7.5%) HP:0001770
32 atresia of the external auditory canal 32 hallmark (90%) HP:0000413
33 anophthalmia 32 hallmark (90%) HP:0000528
34 scrotal hypoplasia 32 hallmark (90%) HP:0000046
35 adrenal hypoplasia 32 occasional (7.5%) HP:0000835
36 cupped ear 32 hallmark (90%) HP:0000378
37 posteriorly rotated ears 32 hallmark (90%) HP:0000358
38 optic nerve aplasia 32 hallmark (90%) HP:0012521
39 anterior pituitary hypoplasia 32 frequent (33%) HP:0010627

Drugs & Therapeutics for Frias Syndrome

Search Clinical Trials , NIH Clinical Center for Frias Syndrome

Genetic Tests for Frias Syndrome

Genetic tests related to Frias Syndrome:

# Genetic test Affiliating Genes
1 Frias Syndrome 29

Anatomical Context for Frias Syndrome

MalaCards organs/tissues related to Frias Syndrome:

41
Pituitary, Skin

Publications for Frias Syndrome

Articles related to Frias Syndrome:

# Title Authors Year
1
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. ( 25421130 )
2014
2
Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. ( 24464842 )
2014
3
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. ( 19887127 )
2010
4
Congenital alacrima in a patient with G (Opitz Frias) syndrome. ( 8834259 )
1996
5
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. ( 7745346 )
1995
6
Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. ( 4083447 )
1985

Variations for Frias Syndrome

Expression for Frias Syndrome

Search GEO for disease gene expression data for Frias Syndrome.

Pathways for Frias Syndrome

GO Terms for Frias Syndrome

Sources for Frias Syndrome

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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