Details of Disease | DrugMAP

General Information of Disease (ID: DISSO9WK)

Disease Name	Craniofrontonasal syndrome
Synonyms	craniofrontonasal dysostosis; craniofrontonasal syndrome; Craniofrontonasal Dysplasia; CFND; craniofrontonasal dysplasia, X-linked dominant; craniofrontonasal dysplasia; CFNS
Definition	An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS2IQBH: Neurocristopathy DIS5Z8U6: Skeletal dysplasia DISSO9WK: Craniofrontonasal syndrome
Disease Identifiers	MONDO ID MONDO_0010570 MESH ID C536456 UMLS CUI C0220767 OMIM ID 304110 MedGen ID 65095 Orphanet ID 1520 SNOMED CT ID 715421009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EPHA1	TTLFZVU	Strong	Genetic Variation	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDA	OTAKS5WS	Limited	Biomarker	[2]
PJA1	OTFKTMEI	Limited	Biomarker	[3]
ALX3	OTXZ25PZ	moderate	Biomarker	[4]
ALX1	OTZVARA5	Strong	Biomarker	[4]
ALX4	OTNS9A29	Strong	Biomarker	[4]
EFNA4	OTITKZQH	Strong	Genetic Variation	[5]
EFNB1	OT7JJW8P	Definitive	X-linked	[6]
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⏷ Show the Full List of 7 DOT(s)

References

1	A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.Cleft Palate Craniofac J. 2018 Aug;55(7):1026-1029. doi: 10.1597/15-347. Epub 2018 Feb 26.
2	Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.Clin Genet. 2007 Dec;72(6):506-16. doi: 10.1111/j.1399-0004.2007.00905.x. Epub 2007 Oct 16.
3	Identification of genes expressed in the amygdala during the formation of fear memory.Learn Mem. 2001 Jul-Aug;8(4):209-19. doi: 10.1101/lm.39401.
4	Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.
5	Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.Cleft Palate Craniofac J. 2018 Aug;55(7):1020-1025. doi: 10.1597/16-135. Epub 2018 Feb 22.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.