MCID: FRS007
MIFTS: 29

Frias Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Frias Syndrome

MalaCards integrated aliases for Frias Syndrome:

Name: Frias Syndrome 56 52 29 71
Growth Deficiency, Facial Anomalies, and Brachydactyly 56 52
Chromosome 14q22 Deletion Syndrome 56 52
14q22-Q23 Microdeletion Syndrome 52 58
14q22q23 Microdeletion Syndrome 52 58
Monosomy 14q22-Q23 52 58
Monosomy 14q22q23 52 58
Del(14)(q22q23) 52 58

Characteristics:

Orphanet epidemiological data:

58
14q22q23 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
frias syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Frias Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 264200 Definition 14q22q23 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, skin and hypothalamus, and related phenotypes are hypertelorism and ptosis

OMIM : 56 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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 martinez-frias syndrome 12.7
2 opitz-gbbb syndrome 12.0
3 opitz gbbb syndrome, type ii 11.8
4 mitchell-riley syndrome 11.6
5 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 11.2
6 hypertelorism 10.2
7 brachydactyly 10.1
8 ptosis 10.1
9 duodenal atresia 10.1
10 hemochromatosis, neonatal 10.1
11 hemochromatosis, type 1 10.1
12 autosomal recessive disease 10.1
13 esophageal atresia 10.1
14 intestinal atresia 10.1
15 hypospadias 10.1
16 obstructive jaundice 10.1
17 biliary atresia 10.1
18 achalasia 10.1
19 dysphagia 10.1
20 congenital alacrima 10.1

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



Diseases related to Frias Syndrome

Symptoms & Phenotypes for Frias Syndrome

Human phenotypes related to Frias Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
10 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
11 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
12 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
13 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
14 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
15 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
16 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
17 cupped ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000378
18 optic nerve aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012521
19 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
20 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
21 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
22 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
23 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
24 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
25 diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000873
26 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
27 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
28 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
29 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
30 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
31 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
32 short 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010044
33 short 5th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010047
34 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
35 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
36 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
37 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
38 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
39 adrenal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000835
40 abnormality of the hypothalamus-pituitary axis 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Pituitary, Skin, Hypothalamus

Publications for Frias Syndrome

Articles related to Frias Syndrome:

(show all 14)
# Title Authors PMID Year
1
Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. 56
24311462 2014
2
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family. 56
16088912 2005
3
What is this chocolate milk in my circuit? A cause of acute clotting of a continuous renal replacement circuit: Questions. 61
26815660 2016
4
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. 61
26761945 2016
5
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. 61
25421130 2014
6
Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. 61
24464842 2014
7
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. 61
19887127 2010
8
H-type tracheoesophageal fistula with type III laryngotracheoesophageal cleft. 61
17558506 2007
9
Congenital alacrima in a patient with G (Opitz Frias) syndrome. 61
8834259 1996
10
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. 61
7745346 1995
11
G syndrome: a review of the literature and a case report. 61
1564117 1992
12
Total laryngotracheal hypoplasia in a case of G syndrome. 61
3062116 1988
13
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 61
3351901 1988
14
Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. 61
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 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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