MCID: FRS007
MIFTS: 28

Frias Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Frias Syndrome

MalaCards integrated aliases for Frias Syndrome:

Name: Frias Syndrome 57 53 29 72
Growth Deficiency, Facial Anomalies, and Brachydactyly 57 53
Chromosome 14q22 Deletion Syndrome 57 53
14q22-Q23 Microdeletion Syndrome 53 59
14q22q23 Microdeletion Syndrome 53 59
Monosomy 14q22-Q23 53 59
Monosomy 14q22q23 53 59
Del(14)(q22q23) 53 59

Characteristics:

Orphanet epidemiological data:

59
14q22q23 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
frias syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609640
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA264200
MedGen 42 C1864825
UMLS 72 C1864825

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: 264200Definition14q22q23 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 : 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

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
7 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
8 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
9 preauricular skin tag 59 32 hallmark (90%) Very frequent (99-80%) HP:0000384
10 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
11 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
12 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
13 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
14 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
15 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
16 cupped ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000378
17 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
18 optic nerve aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012521
19 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
20 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
21 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
22 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
23 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
24 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
25 diabetes insipidus 59 32 frequent (33%) Frequent (79-30%) HP:0000873
26 anterior pituitary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0010627
27 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
28 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
29 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
30 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
31 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
32 short 4th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010044
33 short 5th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010047
34 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
35 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
36 renal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000089
37 decreased fetal movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0001558
38 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
39 adrenal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000835
40 abnormality of the hypothalamus-pituitary axis 59 Very frequent (99-80%)

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

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, 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. 8
24311462 2014
2
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family. 8
16088912 2005
3
What is this chocolate milk in my circuit? A cause of acute clotting of a continuous renal replacement circuit: Questions. 38
26815660 2016
4
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. 38
26761945 2016
5
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome. 38
25421130 2014
6
Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome. 38
24464842 2014
7
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. 38
19887127 2010
8
H-type tracheoesophageal fistula with type III laryngotracheoesophageal cleft. 38
17558506 2007
9
Congenital alacrima in a patient with G (Opitz Frias) syndrome. 38
8834259 1996
10
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. 38
7745346 1995
11
G syndrome: a review of the literature and a case report. 38
1564117 1992
12
Total laryngotracheal hypoplasia in a case of G syndrome. 38
3062116 1988
13
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 38
3351901 1988
14
Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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