Orofaciodigital syndrome 1

Orofaciodigital syndrome 1
Other names	OFDI, OFDSI, Oral-facial-digital syndrome type 1

This condition is inherited in an X-linked dominant manner.
Specialty	Medical genetics

Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome,^[1] is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.^[2]

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Cause

Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. OFD1 localizes to both centrosomes and basal bodies within the human genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types throughout the human body. Cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.^[2]

Other types include:

OMIM: 252100 Mohr syndrome; Orofaciodigital syndrome 2 at NIH's Office of Rare Diseases
OMIM: 258860 Orofaciodigital syndrome 4 at NIH's Office of Rare Diseases
OMIM: 300238 Orofaciodigital syndrome, Shashi type at NIH's Office of Rare Diseases
OMIM: 277170 Varadi Papp syndrome; OFD6 at NIH's Office of Rare Diseases

Relation to other rare genetic disorders

Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genotypical root cause of these widely varying, phenotypically-observed disorders. Orofaciodigital syndrome has been found to be a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.^[2]

Diagnosis

Orofaciodigital syndrome type 1 is diagnosed through genetic testing. Some symptoms of Orofaciodigital syndrome type 1 are oral features such as, split tongue, benign tumors on the tongue, cleft palate, hypodontia and other dental abnormalities. Other symptoms of the face include hypertelorism and micrognathia. Bodily abnormalities such as webbed, short, joined, or abnormally curved fingers and toes are also symptoms of Orofaciodigital syndrome type 1. The most frequent symptoms are accessory oral frenulum, broad alveolar ridges, frontal bossing, high palate, hypertelorism, lobulated tongue, median cleft lip, and wide nasal bridge. Genetic screening of the OFD1 gene is used to officially diagnose a patient who has the syndrome, this is detected in 85% of individuals who are suspected to have Orofaciodigital syndrome type 1.^[3]^[4]

Management

Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body. Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion. Routine treatment for patients with renal disease and seizures may also be necessary. Speech therapy and special education in the later development may also be used as management.^[5]

References

^ Online Mendelian Inheritance in Man (OMIM): 311200
^ ^a ^b ^c Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genom Hum Genet. 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
^ "Orofaciodigital syndrome 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-07.
^ Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul CM; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca (2012-01-11). "Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI". Orphanet Journal of Rare Diseases. 7: 4. doi:10.1186/1750-1172-7-4. ISSN 1750-1172. PMC 3313869. PMID 22236771.
^ Toriello, Helga V.; Franco, Brunella; Bruel, Ange-Line; Thauvin-Robinet, Christel (1993). "Oral-Facial-Digital Syndrome Type I". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301367.

External links

v t e Diseases of cilia
Structural	receptor: Polycystic kidney disease cargo: Asphyxiating thoracic dysplasia basal body: Bardet–Biedl syndrome mitotic spindle: Meckel syndrome centrosome: Joubert syndrome
Signaling	Nephronophthisis
Other/ungrouped	Alström syndrome Primary ciliary dyskinesia Senior–Løken syndrome Orofaciodigital syndrome 1 McKusick–Kaufman syndrome Autosomal recessive polycystic kidney
See also: ciliary proteins

X-linked disorders

X-linked recessive
Immune	Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency
Hematologic	Haemophilia A Haemophilia B X-linked sideroblastic anemia
Endocrine	Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita
Metabolic	Amino acid: Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Adrenoleukodystrophy Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder: Fabry disease Mucopolysaccharidosis: Hunter syndrome Purine–pyrimidine metabolism: Lesch–Nyhan syndrome Mineral: Menkes disease/Occipital horn syndrome
Nervous system	X-linked intellectual disability: Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome PHF8 Eye disorders: Color blindness (red and green, but not blue) Ocular albinism (1) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2
Skin and related tissue	Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy
Neuromuscular	Becker muscular dystrophy/Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1
Urologic	Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus
Bone/tooth	AMELX Amelogenesis imperfecta
No primary system	Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome

X-linked dominant
X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia

This page was last edited on 3 December 2023, at 02:14

Classification	D OMIM: 311200 MeSH: D009958 DiseasesDB: 29898
External resources	Orphanet: 2750

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