SAMES
MCID: TRG019
MIFTS: 34

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 56
Say-Meyer Syndrome 56 74 52 58
Trigonocephaly-Short Stature-Developmental Delay Syndrome 52 58
Say Meyer Syndrome 52 71
Trigonocephaly, Short Stature, and Retarded Psychomotor Development 52
Say-Meyer Syndrome; Sames 56
Sames 56

Characteristics:

Orphanet epidemiological data:

58
trigonocephaly-short stature-developmental delay syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
trigonocephaly with short stature and developmental delay:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Trigonocephaly with Short Stature and Developmental Delay

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephaly-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, heart and kidney, and related phenotypes are global developmental delay and short stature

Wikipedia : 74 Say-Meyer 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 3243)
# 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 herpes zoster 11.2
7 pulmonary fibrosis, idiopathic 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 hereditary spastic paraplegia 11.1
30 acrocallosal syndrome 11.1
31 3-methylglutaconic aciduria, type iii 11.1
32 opioid addiction 11.1
33 cleidocranial dysplasia 11.1
34 ulnar-mammary syndrome 11.1
35 donnai-barrow syndrome 11.1
36 carbuncle 11.1
37 fainting 11.1
38 postherpetic neuralgia 11.1
39 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.0
40 alzheimer disease 11.0
41 kaposi sarcoma 11.0
42 breast cancer 11.0
43 branchiootic syndrome 1 11.0
44 systemic lupus erythematosus 11.0
45 keratoconus 11.0
46 migraine with or without aura 1 11.0
47 endocarditis 11.0
48 mycosis fungoides 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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
9 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
10 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
11 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
12 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
13 multiple suture craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0011324
14 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
15 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
16 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
17 large beaked nose 58 31 frequent (33%) Frequent (79-30%) HP:0003683
18 small anterior fontanelle 58 31 frequent (33%) Frequent (79-30%) HP:0000237
19 fifth finger distal phalanx clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0005769
20 metopic suture patent to nasal root 58 31 frequent (33%) Frequent (79-30%) HP:0005495
21 broad secondary alveolar ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000216
22 premature posterior fontanelle closure 58 31 frequent (33%) Frequent (79-30%) HP:0005494
23 epicanthus 31 frequent (33%) HP:0000286
24 low-set ears 31 HP:0000369
25 intellectual disability 31 HP:0001249
26 clinodactyly of the 5th finger 31 HP:0004209
27 posteriorly rotated ears 31 HP:0000358
28 convex nasal ridge 31 HP:0000444
29 prominent epicanthal folds 58 Frequent (79-30%)
30 sagittal craniosynostosis 31 HP:0004442
31 lambdoidal craniosynostosis 31 HP:0004443

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Head And Neck Face:
narrow forehead

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

Cardiovascular Heart:
ventricular septal defect

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

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:

40
Bone, Heart, Kidney, Thyroid, Brain, Breast, T Cells

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. 61 56
30797980 2020
2
Familial trigonocephaly associated with short stature and developmental delay. 56
6168197 1981
3
Trigonocephaly and associated minor anomalies in mother and son. 56
1271432 1976
4
Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment. 61
25904354 2015
5
A rare case of short stature: Say Meyer syndrome. 61
24251132 2013
6
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61
12567409 2003
7
[Say-Meyer syndrome]. 61
11528918 2001
8
[Say-Meyer syndrome. Report of a new case]. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1):c.145-2A>GSNV Likely pathogenic 617512 rs1569509136 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 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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