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Orofaciodigital syndrome X(OFD10)

MedGen UID:
322280
•Concept ID:
C1833796
•
Disease or Syndrome
Synonyms: OFD syndrome 10; OFDS 10; OFDS X; Oral facial digital syndrome type 10; Oral-facial-digital syndrome with fibular aplasia; ORAL-FACIAL-DIGITAL SYNDROME, TYPE X; Orofaciodigital syndrome 10; Orofaciodigital syndrome type Figuera; Orofaciodigital syndrome with fibular aplasia
SNOMED CT: Orofaciodigital syndrome type 10 (722075004); Figuera syndrome (722075004); Orofaciodigital syndrome with fibular aplasia (722075004); Oro-facial digital syndrome type 10 (722075004)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008137
OMIM®: 165590
Orphanet: ORPHA2756

Definition

Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. [from SNOMEDCT_US]

Clinical features

From HPO
Preaxial hand polydactyly
MedGen UID:
237235
•Concept ID:
C1395852
•
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
See: Feature record | Search on this feature
Fibular aplasia
MedGen UID:
373034
•Concept ID:
C1836186
•
Finding
Absence of the fibula.
See: Feature record | Search on this feature
Finger aplasia
MedGen UID:
1841564
•Concept ID:
C5779506
•
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
See: Feature record | Search on this feature
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
Coalescence of tarsal bones
MedGen UID:
870676
•Concept ID:
C4025130
•
Anatomical Abnormality
See: Feature record | Search on this feature
Telecanthus
MedGen UID:
140836
•Concept ID:
C0423113
•
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
See: Feature record | Search on this feature
Depressed nasal bridge
MedGen UID:
373112
•Concept ID:
C1836542
•
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrofaciodigital syndrome X
Follow this link to review classifications for Orofaciodigital syndrome X in Orphanet.

Recent clinical studies

Etiology

Papillon-Léage and psaume syndrome patient with multiple dental and orofacial anomalies.
Kilinc DD, Ozsarp E
Niger J Clin Pract 2019 Jun;22(6):872-876. doi: 10.4103/njcp.njcp_451_18. PMID: 31187776
ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M, Franco B
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. PMID: 19876934

Diagnosis

Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome.
Li SL, Li KY, Wang YQ
J Craniofac Surg 2022 Nov-Dec 01;33(8):e831-e834. Epub 2022 Aug 17 doi: 10.1097/SCS.0000000000008764. PMID: 36409858
Papillon-Léage and psaume syndrome patient with multiple dental and orofacial anomalies.
Kilinc DD, Ozsarp E
Niger J Clin Pract 2019 Jun;22(6):872-876. doi: 10.4103/njcp.njcp_451_18. PMID: 31187776
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755
Orofaciodigital syndrome.
Naiboglu B, Oysu C, Gokceer T
Ear Nose Throat J 2012 Jan;91(1):E8-9. doi: 10.1177/014556131209100115. PMID: 22278878
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article

Therapy

ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069

Prognosis

Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K
J Hum Genet 2019 Jan;64(1):3-9. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0532-x. PMID: 30401917
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z
Clin Dysmorphol 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. PMID: 28505061
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM
Hum Mol Genet 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163. PMID: 9215688
Congenital hand anomaly: etiology and associated malformations.
Goldberg MJ, Bartoshesky LE
Hand Clin 1985 Aug;1(3):405-15. PMID: 3007544

Clinical prediction guides

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
Gangaram B, Devine WP, Slavotinek A
Eur J Med Genet 2022 Jun;65(6):104496. Epub 2022 Apr 6 doi: 10.1016/j.ejmg.2022.104496. PMID: 35398350Free PMC Article
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z
Clin Dysmorphol 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. PMID: 28505061
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ
Hum Mutat 2013 Jan;34(1):237-47. Epub 2012 Oct 17 doi: 10.1002/humu.22224. PMID: 23033313Free PMC Article
Orodigitofacial syndromes type I and II: clinical and surgical studies.
Martinot VL, Manouvrier S, Anastassov Y, Ribiere J, Pellerin PN
Cleft Palate Craniofac J 1994 Sep;31(5):401-8. doi: 10.1597/1545-1569_1994_031_0401_ostiai_2.3.co_2. PMID: 7986802
Congenital hand anomaly: etiology and associated malformations.
Goldberg MJ, Bartoshesky LE
Hand Clin 1985 Aug;1(3):405-15. PMID: 3007544

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