MCID: SYS006
MIFTS: 31

Say Syndrome

Categories: Rare diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Say Syndrome

MalaCards integrated aliases for Say Syndrome:

Name: Say Syndrome 57 53 73
Cleft Palate, Microcephaly, Large Ears, and Short Stature 57 53
Cleft Palate-Large Ears-Small Head Syndrome 59
Cleft Palate Large Ears Small Head 53
Say Barber Hobbs Syndrome 53
Say-Barber-Hobbs Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cleft palate-large ears-small head syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
say syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Say 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: 2013Disease definitionCleft 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, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.Visit the Orphanet disease page for more resources.

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 bone, skin and skeletal muscle, and related phenotypes are pectus excavatum and ptosis

Wikipedia : 76 Say syndrome is a condition characterized by bilateral acromial... more...

Description from OMIM: 181180

Related Diseases for Say Syndrome

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

# Related Disease Score Top Affiliating Genes
1 barber-say syndrome 32.2 LOC100287387 TWIST2
2 ablepharon-macrostomia syndrome 11.2
3 ectropion 9.7
4 hypertrichosis 9.7
5 cleft palate, isolated 9.6
6 hypertelorism 9.6
7 microcephaly 9.6
8 conjunctivitis 9.6
9 renal dysplasia 9.6

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



Diseases related to Say Syndrome

Symptoms & Phenotypes for Say Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head:
microcephaly
micrognathia

Mouth:
cleft palate

GU:
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

Human phenotypes related to Say Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
5 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
11 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 aplasia/hypoplasia of the nipples 59 32 frequent (33%) Frequent (79-30%) HP:0006709
14 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
15 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
16 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
17 elfin facies 59 32 frequent (33%) Frequent (79-30%) HP:0004428
18 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
19 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
20 proximal renal tubular acidosis 32 HP:0002049
21 tapered finger 32 HP:0001182
22 abnormality of the skin 32 HP:0000951
23 cystic renal dysplasia 32 HP:0000800
24 ulnar deviation of the 3rd finger 32 HP:0009463

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:

41
Bone, Skin, Skeletal Muscle

Publications for Say Syndrome

Articles related to Say Syndrome:

(show all 20)
# Title Authors Year
1
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome. ( 29329175 )
2018
2
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
3
Barber-say syndrome: a confirmed case of TWIST2 gene mutation. ( 28680619 )
2017
4
General anesthesia of a Japanese infant with Barber-Say syndrome: a case report. ( 29497666 )
2016
5
Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family. ( 27092433 )
2016
6
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
7
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. ( 26119818 )
2015
8
A case of Barber-Say syndrome in a male Japanese newborn. ( 25614816 )
2014
9
Barber-Say syndrome in a father and daughter. ( 20799330 )
2010
10
Oral and dental abnormalities in Barber-Say syndrome. ( 20830793 )
2010
11
What syndrome is this? Barber-Say syndrome. ( 16650233 )
2006
12
Oculoplastic approach to treating Barber-Say syndrome. ( 16714944 )
2006
13
Say syndrome: report of a familial case. ( 10449654 )
1999
14
Autosomal dominant inheritance of Barber-Say syndrome. ( 10440829 )
1999
15
Barber-Say Syndrome: report of a new case. ( 9674915 )
1998
16
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. ( 9415700 )
1997
17
Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. ( 9182773 )
1997
18
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. ( 8368246 )
1993
19
Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). ( 8434624 )
1993
20
Bladder disconfiguration in conjunction with the Vater associated anomalies (Say syndrome). ( 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 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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