Scaphocephaly, Maxillary Retrusion, and Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards integrated aliases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation ⁵⁶ ²⁹ ¹³ ⁶ ³⁹

Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome ⁵⁸

Scaphocephaly with Maxillary Retrusion and Mental Retardation ⁷³

Familial Scaphocephaly Syndrome, Mcgillivray Type ⁵⁸

Familial Scaphocephaly Syndrome ⁷³

Fspc ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Neuronal diseases Mental 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 bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 609579

MeSH ⁴³ D003398

ICD10 via Orphanet ³³ Q87.0

UMLS via Orphanet ⁷² C1865070

Orphanet ⁵⁸ ORPHA168624

MedGen ⁴¹ C1865070

SNOMED-CT via HPO ⁶⁸ 109504005 194021007 22006008 more

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Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : ⁷³ Familial scaphocephaly syndrome: An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.

MalaCards based summary : Scaphocephaly, Maxillary Retrusion, and Mental Retardation, also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome, is related to familial scaphocephaly syndrome and mcgillivray syndrome. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, skin and testes, and related phenotypes are hypertelorism and macrocephaly

More information from OMIM: 609579

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Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Diseases related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	familial scaphocephaly syndrome	12.5
2	mcgillivray syndrome	11.6
3	crouzon syndrome	10.0

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Symptoms & Phenotypes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁵⁸ ³¹ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	macrocephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000256
3	high forehead ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000348
4	open bite ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010807
5	intellectual disability, mild ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001256
6	high palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000218
7	dolichocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000268
8	midface retrusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011800
9	mandibular prognathia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000303
10	broad hallux phalanx ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010059
11	upslanted palpebral fissure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000582
12	ventriculomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002119
13	toe syndactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001770
14	trigonocephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000243
15	intellectual disability ³¹			HP:0001249

Clinical features from OMIM:

609579

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Drugs & Therapeutics for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic tests related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

#	Genetic test	Affiliating Genes
1	Scaphocephaly, Maxillary Retrusion, and Mental Retardation ²⁹	FGFR2

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Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁴⁰

Bone, Skin, Testes

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Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Articles related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

#	Title	Authors	PMID	Year
1	Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. ⁶ ⁵⁶	McGillivray G...Lamande SR	16061565	2005
2	Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. ⁶	Deng C...Leder P	9169049	1997
3	Recovery after surgery: do not forget to check iron status before. ⁶¹	Serati M...Athanasiou S	31692546	2019
4	A profile of perceived stress factors among nursing staff working with intellectually disabled in-patients at the Free State Psychiatric Complex, South Africa. ⁶¹	Conradie M...Joubert G	28397510	2017
5	Accountable or not accountable: A profile comparison of alleged offenders referred to the Free State Psychiatric Complex Forensic Observation Ward in Bloemfontein from 2009 to 2012. ⁶¹	du Plessis ED...Joubert G	30263191	2017
6	The use of computed tomography scans and the Bender Gestalt Test in the assessment of competency to stand trial and criminal responsibility in the field of mental health and law. ⁶¹	Mosotho NL...Joubert G	27289503	2017
7	Reliability of skin-type self-assessment: agreement of adolescents' repeated Fitzpatrick skin phototype classification ratings during a cohort study. ⁶¹	Magin P...Paterson N	22035130	2012
8	Cyclic strain increases fibroblast proliferation, matrix accumulation, and elastic modulus of fibroblast-seeded polyurethane constructs. ⁶¹	Webb K...Tresco PA	16256125	2006
9	Effects of fibrin sealant protein concentrate with and without platelet-released growth factors on bony healing of cortical mandibular defects. An experimental study in minipigs. ⁶¹	Fuerst G...Watzek G	15142092	2004

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Genes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1659.1	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	16061565 9169049

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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

ClinVar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FGFR2	NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	SNV	Pathogenic	13263	rs121918487	10:123276892-123276892	10:121517378-121517378
2	FGFR2	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	SNV	Pathogenic	13268	rs121918491	10:123276885-123276885	10:121517371-121517371
3	FGFR2	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	SNV	Pathogenic	13272	rs79184941	10:123279677-123279677	10:121520163-121520163
4	FGFR2	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	SNV	Pathogenic	13273	rs77543610	10:123279674-123279674	10:121520160-121520160
5	FGFR2	NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	SNV	Pathogenic	13277	rs121913478	10:123274794-123274794	10:121515280-121515280
6	FGFR2	NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)	SNV	Pathogenic	13295	rs121918507	10:123258105-123258105	10:121498591-121498591
7	FGFR2	NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)	SNV	Pathogenic	449024	rs1434545235	10:123325014-123325014	10:121565500-121565500
8	FGFR2	NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)	SNV	Pathogenic	478046	rs1554927408	10:123274768-123274768	10:121515254-121515254
9	FGFR2	NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	SNV	Pathogenic/Likely pathogenic	374817	rs1057519044	10:123276904-123276904	10:121517390-121517390
10	FGFR2	NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	SNV	Conflicting interpretations of pathogenicity	577711	rs199757302	10:123276928-123276928	10:121517414-121517414

UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR2	p.Lys526Glu	VAR_023788	rs121918507

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Expression for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search GEO for disease gene expression data for Scaphocephaly, Maxillary Retrusion, and Mental Retardation.

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Pathways for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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GO Terms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Scaphocephaly, Maxillary Retrusion, and Mental Retardation (FSPC)

Aliases & Classifications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards integrated aliases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Diseases related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Clinical features from OMIM:

Drugs & Therapeutics for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic tests related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Articles related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Genes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation (1 elite genes):

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

ClinVar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Expression for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Pathways for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

GO Terms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation