MCID: SYS006
MIFTS: 27

Say Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Say Syndrome

MalaCards integrated aliases for Say Syndrome:

Name: Say Syndrome 57 20 70
Cleft Palate, Microcephaly, Large Ears, and Short Stature 57 20
Cleft Palate-Large Ears-Small Head Syndrome 58
Cleft Palate Large Ears Small Head 20
Say Barber Hobbs Syndrome 20
Say-Barber-Hobbs Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cleft palate-large ears-small head syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
say syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Say Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2013 Definition Cleft palate -large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.

MalaCards based summary : Say Syndrome, also known as cleft palate, microcephaly, large ears, and short stature, is related to barber-say syndrome and ablepharon-macrostomia syndrome. An important gene associated with Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skeletal muscle and skin, and related phenotypes are delayed skeletal maturation and macrotia

More information from OMIM: 181180

Related Diseases for Say Syndrome

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 barber-say syndrome 11.8
2 ablepharon-macrostomia syndrome 11.0
3 macrostomia, isolated 10.3
4 hypertrichosis 10.2
5 ectropion 10.2
6 cleft palate, isolated 10.1
7 hypertelorism 10.1
8 microcephaly 10.0
9 keratitis, hereditary 9.8
10 renal tubular acidosis, proximal 9.8
11 telecanthus 9.8
12 focal facial dermal dysplasia 3, setleis type 9.8
13 taurodontism 9.8
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
15 gingival fibromatosis 9.8
16 hypospadias 9.8
17 renal tubular acidosis 9.8
18 ectodermal dysplasia 9.8
19 keratopathy 9.8
20 skin atrophy 9.8
21 cutis laxa 9.8
22 exposure keratitis 9.8
23 fibromatosis 9.8
24 renal dysplasia 9.8

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



Diseases related to Say Syndrome

Symptoms & Phenotypes for Say Syndrome

Human phenotypes related to Say Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
9 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
10 aplasia/hypoplasia of the nipples 58 31 frequent (33%) Frequent (79-30%) HP:0006709
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
13 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
14 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
15 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
16 elfin facies 58 31 frequent (33%) Frequent (79-30%) HP:0004428
17 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
18 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
19 hypotonia 31 frequent (33%) HP:0001252
20 muscular hypotonia 58 Frequent (79-30%)
21 proximal renal tubular acidosis 31 HP:0002049
22 tapered finger 31 HP:0001182
23 abnormality of the skin 31 HP:0000951
24 cystic renal dysplasia 31 HP:0000800
25 ulnar deviation of the 3rd finger 31 HP:0009463

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head:
microcephaly
micrognathia

Mouth:
cleft palate

G U:
cystic renal dysplasia

Ears:
large ears

Growth:
short stature

Metabolic:
proximal renal tubular acidosis

Skin:
acromial dimples

Limbs:
hypoplastic distal phalanges
hand anomalies
distally tapering fingers
ulnar deviation of middle fingers
low set thumbs

Clinical features from OMIM®:

181180 (Updated 05-Apr-2021)

Drugs & Therapeutics for Say Syndrome

Search Clinical Trials , NIH Clinical Center for Say Syndrome

Genetic Tests for Say Syndrome

Anatomical Context for Say Syndrome

MalaCards organs/tissues related to Say Syndrome:

40
Skeletal Muscle, Skin

Publications for Say Syndrome

Articles related to Say Syndrome:

(show all 30)
# Title Authors PMID Year
1
Say syndrome: report of a familial case. 57 61
10449654 1999
2
Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. 57 61
9182773 1997
3
Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). 61 57
8434624 1993
4
A new dominantly inherited syndrome of cleft palate. 57
1132884 1975
5
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 61
30455119 2019
6
Barber Say Syndrome (A New Case Report). 61
30984591 2019
7
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018
8
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. 61
29329175 2018
9
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017
10
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. 61
28680619 2017
11
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 61
28690482 2017
12
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. 61
27092433 2016
13
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 61
27196381 2016
14
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. 61
29497666 2016
15
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 61
26119818 2015
16
A case of Barber-Say syndrome in a male Japanese newborn. 61
25614816 2014
17
Bilateral acromial dimples: a case report and review of the literature. 61
23171068 2014
18
Barber-Say syndrome in a father and daughter. 61
20799330 2010
19
Oral and dental abnormalities in Barber-Say syndrome. 61
20830793 2010
20
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 61
19760652 2009
21
Oculoplastic approach to treating Barber-Say syndrome. 61
16714944 2006
22
What syndrome is this? Barber-Say syndrome. 61
16650233 2006
23
Ablepharon-macrostomia syndrome. 61
11807864 2002
24
[Barber-Say syndrome]. 61
11462424 2001
25
Autosomal dominant inheritance of Barber-Say syndrome. 61
10440829 1999
26
Barber-Say Syndrome: report of a new case. 61
9674915 1998
27
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. 61
9415700 1997
28
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. 61
8834257 1996
29
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. 61
8368246 1993
30
Bladder disconfiguration in conjunction with the Vater associated anomalies (Say syndrome). 61
3727029 1986

Variations for Say Syndrome

Expression for Say Syndrome

Search GEO for disease gene expression data for Say Syndrome.

Pathways for Say Syndrome

GO Terms for Say Syndrome

Sources for Say Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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