SAMES
MCID: TRG019
MIFTS: 31

Trigonocephaly with Short Stature and Developmental Delay (SAMES)

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Trigonocephaly with Short Stature and Developmental Delay

MalaCards integrated aliases for Trigonocephaly with Short Stature and Developmental Delay:

Name: Trigonocephaly with Short Stature and Developmental Delay 57
Say-Meyer Syndrome 57 75 53 59
Trigonocephaly-Short Stature-Developmental Delay Syndrome 53 59
Say Meyer Syndrome 53 72
Trigonocephaly, Short Stature, and Retarded Psychomotor Development 53
Trigonocephaly, Short Stature and Developmental Delay 53
Say-Meyer Syndrome; Sames 57
Sames 57

Characteristics:

Orphanet epidemiological data:

59
trigonocephaly-short stature-developmental delay syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
trigonocephaly with short stature and developmental delay:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 314320
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1839125
Orphanet 59 ORPHA3369
MedGen 42 C1839125
UMLS 72 C1839125

Summaries for Trigonocephaly with Short Stature and Developmental Delay

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3369DefinitionTrigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trigonocephaly with Short Stature and Developmental Delay, also known as say-meyer syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and histiocytosis-lymphadenopathy plus syndrome, and has symptoms including seizures Affiliated tissues include bone, and related phenotypes are global developmental delay and short stature

Wikipedia : 75 Say-Neger syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental... more...

More information from OMIM: 314320

Related Diseases for Trigonocephaly with Short Stature and Developmental Delay

Diseases related to Trigonocephaly with Short Stature and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3249)
# Related Disease Score Top Affiliating Genes
1 ankyloblepharon-ectodermal defects-cleft lip/palate 11.3
2 histiocytosis-lymphadenopathy plus syndrome 11.3
3 spondyloarthropathy 1 11.3
4 griscelli syndrome 11.2
5 ichthyosis, congenital, autosomal recessive 1 11.2
6 pulmonary fibrosis, idiopathic 11.2
7 herpes zoster 11.2
8 myotonic dystrophy 11.2
9 li-fraumeni syndrome 11.2
10 masa syndrome 11.2
11 cluster headache 11.2
12 hemicrania continua 11.2
13 dementia, lewy body 11.2
14 mitochondrial complex iv deficiency 11.2
15 spastic paraplegia 2, x-linked 11.2
16 exudative vitreoretinopathy 11.2
17 opitz-gbbb syndrome 11.2
18 psoriatic arthritis 11.1
19 polyneuropathy 11.1
20 multiple endocrine neoplasia, type iia 11.1
21 proteasome-associated autoinflammatory syndrome 1 11.1
22 holt-oram syndrome 11.1
23 trigeminal neuralgia 11.1
24 insulin-like growth factor i 11.1
25 adrenoleukodystrophy 11.1
26 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
27 wiskott-aldrich syndrome 11.1
28 aseptic meningitis 11.1
29 acrocallosal syndrome 11.1
30 3-methylglutaconic aciduria, type iii 11.1
31 hereditary spastic paraplegia 11.1
32 opioid addiction 11.1
33 blepharophimosis, ptosis, and epicanthus inversus 11.1
34 cleidocranial dysplasia 11.1
35 ulnar-mammary syndrome 11.1
36 donnai-barrow syndrome 11.1
37 carbuncle 11.1
38 fainting 11.1
39 postherpetic neuralgia 11.1
40 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.0
41 alzheimer disease 11.0
42 breast cancer 11.0
43 kaposi sarcoma 11.0
44 systemic lupus erythematosus 11.0
45 branchiootic syndrome 1 11.0
46 keratoconus 11.0
47 migraine with or without aura 1 11.0
48 endocarditis 11.0
49 astigmatism 11.0
50 leukemia, acute lymphoblastic 11.0

Graphical network of the top 20 diseases related to Trigonocephaly with Short Stature and Developmental Delay:



Diseases related to Trigonocephaly with Short Stature and Developmental Delay

Symptoms & Phenotypes for Trigonocephaly with Short Stature and Developmental Delay

Human phenotypes related to Trigonocephaly with Short Stature and Developmental Delay:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 narrow forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000341
9 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
10 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
11 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
12 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
13 multiple suture craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0011324
14 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
15 postnatal microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0005484
16 small for gestational age 59 32 frequent (33%) Frequent (79-30%) HP:0001518
17 large beaked nose 59 32 frequent (33%) Frequent (79-30%) HP:0003683
18 small anterior fontanelle 59 32 frequent (33%) Frequent (79-30%) HP:0000237
19 fifth finger distal phalanx clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0005769
20 metopic suture patent to nasal root 59 32 frequent (33%) Frequent (79-30%) HP:0005495
21 broad secondary alveolar ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000216
22 premature posterior fontanelle closure 59 32 frequent (33%) Frequent (79-30%) HP:0005494
23 epicanthus 32 frequent (33%) HP:0000286
24 low-set ears 32 HP:0000369
25 intellectual disability 32 HP:0001249
26 clinodactyly of the 5th finger 32 HP:0004209
27 convex nasal ridge 32 HP:0000444
28 posteriorly rotated ears 32 HP:0000358
29 prominent epicanthal folds 59 Frequent (79-30%)
30 sagittal craniosynostosis 32 HP:0004442
31 lambdoidal craniosynostosis 32 HP:0004443

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Head And Neck Head:
trigonocephaly
small anterior fontanelle
premature posterior fontanelle closure

Head And Neck Eyes:
hypotelorism
epicanthal folds

Skeletal Hands:
fifth finger clinodactyly

Skeletal Skull:
craniosynostosis (metopic, sagittal, lambdoid)

Neurologic Central Nervous System:
seizures
developmental delay
mental retardation

Head And Neck Nose:
wide nasal bridge
beaked nose

Head And Neck Face:
narrow forehead

Cardiovascular Heart:
ventricular septal defect

Growth Other:
small for gestational age

Head And Neck Mouth:
high-arched palate
secondary alveolar ridges

Clinical features from OMIM:

314320

UMLS symptoms related to Trigonocephaly with Short Stature and Developmental Delay:


seizures

Drugs & Therapeutics for Trigonocephaly with Short Stature and Developmental Delay

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 FIBARRIX "Clinical Evaluation of the Response to Chest Physiotherapy in Infants With Acute Bronchiolitis" Completed NCT02458300

Search NIH Clinical Center for Trigonocephaly with Short Stature and Developmental Delay

Genetic Tests for Trigonocephaly with Short Stature and Developmental Delay

Anatomical Context for Trigonocephaly with Short Stature and Developmental Delay

MalaCards organs/tissues related to Trigonocephaly with Short Stature and Developmental Delay:

41
Bone

Publications for Trigonocephaly with Short Stature and Developmental Delay

Articles related to Trigonocephaly with Short Stature and Developmental Delay:

# Title Authors PMID Year
1
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 38 8
30797980 2019
2
Familial trigonocephaly associated with short stature and developmental delay. 8
6168197 1981
3
Trigonocephaly and associated minor anomalies in mother and son. 8
1271432 1976
4
Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment. 38
25904354 2015
5
A rare case of short stature: Say Meyer syndrome. 38
24251132 2013
6
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 38
12567409 2003
7
[Say-Meyer syndrome]. 38
11528918 2001
8
[Say-Meyer syndrome. Report of a new case]. 38
4083633 1985

Variations for Trigonocephaly with Short Stature and Developmental Delay

ClinVar genetic disease variations for Trigonocephaly with Short Stature and Developmental Delay:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1): c.145-2A> G single nucleotide variant Likely pathogenic X:53674519-53674519 X:53647576-53647576

Expression for Trigonocephaly with Short Stature and Developmental Delay

Search GEO for disease gene expression data for Trigonocephaly with Short Stature and Developmental Delay.

Pathways for Trigonocephaly with Short Stature and Developmental Delay

GO Terms for Trigonocephaly with Short Stature and Developmental Delay

Sources for Trigonocephaly with Short Stature and Developmental Delay

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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