Trigonocephaly with Short Stature and Developmental Delay disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SAMES MCID: TRG019 MIFTS: 32	Trigonocephaly with Short Stature and Developmental Delay (SAMES) Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases
Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁶

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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 314320

ICD10 via Orphanet ³³ Q87.0

UMLS via Orphanet ⁷² C1839125

Orphanet ⁵⁸ ORPHA3369

MedGen ⁴¹ C1839125

UMLS ⁷¹ C1839125

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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, 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

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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 3269)

#	Related Disease	Score
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	traumatic brain injury	11.2
9	myotonic dystrophy	11.2
10	li-fraumeni syndrome	11.2
11	masa syndrome	11.2
12	cluster headache	11.2
13	hemicrania continua	11.2
14	dementia, lewy body	11.2
15	mitochondrial complex iv deficiency	11.2
16	spastic paraplegia 2, x-linked	11.2
17	exudative vitreoretinopathy	11.2
18	opitz-gbbb syndrome	11.2
19	psoriatic arthritis	11.1
20	polyneuropathy	11.1
21	multiple endocrine neoplasia, type iia	11.1
22	proteasome-associated autoinflammatory syndrome 1	11.1
23	holt-oram syndrome	11.1
24	trigeminal neuralgia	11.1
25	insulin-like growth factor i	11.1
26	adrenoleukodystrophy	11.1
27	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	11.1
28	wiskott-aldrich syndrome	11.1
29	aseptic meningitis	11.1
30	hereditary spastic paraplegia	11.1
31	acrocallosal syndrome	11.1
32	3-methylglutaconic aciduria, type iii	11.1
33	opioid addiction	11.1
34	cleidocranial dysplasia	11.1
35	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	11.1
36	ulnar-mammary syndrome	11.1
37	donnai-barrow syndrome	11.1
38	carbuncle	11.1
39	fainting	11.1
40	postherpetic neuralgia	11.1
41	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	11.0
42	kaposi sarcoma	11.0
43	breast cancer	11.0
44	alzheimer disease	11.0
45	systemic lupus erythematosus	11.0
46	branchiootic syndrome 1	11.0
47	keratoconus	11.0
48	leukemia, acute lymphoblastic	11.0
49	endocarditis	11.0
50	migraine with or without aura 1	11.0

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

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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 32)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary External Genitalia Male:
inguinal hernia

Neurologic Central Nervous System:
seizures
developmental delay
mental retardation

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

Head And Neck Eyes:
hypotelorism
epicanthal folds

Growth Other:
small for gestational age

Skeletal Hands:
fifth finger clinodactyly

Skeletal Skull:
craniosynostosis (metopic, sagittal, lambdoid)

Head And Neck Nose:
wide nasal bridge
beaked nose

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect

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

Head And Neck Face:
narrow forehead

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

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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

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Genetic Tests for Trigonocephaly with Short Stature and Developmental Delay

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Anatomical Context for Trigonocephaly with Short Stature and Developmental Delay

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

⁴⁰

Bone

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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. ⁵⁶ ⁶¹	Muthusamy B...Pandey A	30797980	2020
2	Familial trigonocephaly associated with short stature and developmental delay. ⁵⁶	Say B...Meyer J	6168197	1981
3	Trigonocephaly and associated minor anomalies in mother and son. ⁵⁶	Hunter AG...Hoffmann HJ	1271432	1976
4	Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment. ⁶¹	Salinas-Torres VM	25904354	2015
5	A rare case of short stature: Say Meyer syndrome. ⁶¹	Karthik TS...Menon B	24251132	2013
6	Clinical and genetic aspects of trigonocephaly: a study of 25 cases. ⁶¹	Azimi C...Teebi AS	12567409	2003
7	[Say-Meyer syndrome]. ⁶¹	Sonoda T	11528918	2001
8	[Say-Meyer syndrome. Report of a new case]. ⁶¹	Martinon Sanchez ML...Martinon Sanchez F	4083633	1985

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Genes for Trigonocephaly with Short Stature and Developmental Delay

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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>G	SNV	Likely pathogenic	617512	rs1569509136	X:53674519-53674519	X:53647576-53647576

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Expression for Trigonocephaly with Short Stature and Developmental Delay

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

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Pathways for Trigonocephaly with Short Stature and Developmental Delay

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GO Terms for Trigonocephaly with Short Stature and Developmental Delay

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Sources for Trigonocephaly with Short Stature and Developmental Delay

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⁷¹ UMLS

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⁷⁴ Wikipedia

Trigonocephaly with Short Stature and Developmental Delay (SAMES)

Aliases & Classifications for Trigonocephaly with Short Stature and Developmental Delay

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Trigonocephaly with Short Stature and Developmental Delay

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Trigonocephaly with Short Stature and Developmental Delay

Interventional clinical trials:

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:

Publications for Trigonocephaly with Short Stature and Developmental Delay

Articles related to Trigonocephaly with Short Stature and Developmental Delay:

Genes for Trigonocephaly with Short Stature and Developmental Delay

Variations for Trigonocephaly with Short Stature and Developmental Delay

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

Expression 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