Orofaciodigital syndrome type 13

MedGen UID:: 420203
•Concept ID:: C2932680
•: Disease or Syndrome

Synonyms:	Degner syndrome; OFD syndrome 13; OFDS 13; Oral facial digital syndrome type 13; Oral-facial-digital syndrome XIII; Orofaciodigital syndrome XIII

Monarch Initiative:	MONDO:0015422
Orphanet:	ORPHA141330

Definition

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOrofaciodigital syndrome type 13

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital anomaly of musculoskeletal system
      - Craniofacial Abnormalities
        Orofaciodigital syndrome
        Orofaciodigital syndrome type 13

Follow this link to review classifications for Orofaciodigital syndrome type 13 in Orphanet.

Recent clinical studies

Etiology

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ
Nat Commun 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. PMID: 36229431 Free PMC Article

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

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C
Clin Genet 2016 Dec;90(6):509-517. Epub 2016 Apr 29 doi: 10.1111/cge.12785. PMID: 27060890 Free PMC Article

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Hayes LL, Simoneaux SF, Palasis S, Niyazov DM
Pediatr Radiol 2008 Sep;38(9):994-8. Epub 2008 May 14 doi: 10.1007/s00247-008-0877-y. PMID: 18478222

Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.

Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E
J Craniofac Surg 2002 Mar;13(2):321-6. doi: 10.1097/00001665-200203000-00028. PMID: 12000897

See all (7)

Diagnosis

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

Oro-facial-digital syndrome type 1: a case report.

Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S
J Indian Soc Pedod Prev Dent 2014 Apr-Jun;32(2):152-5. doi: 10.4103/0970-4388.130980. PMID: 24739916

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Hayes LL, Simoneaux SF, Palasis S, Niyazov DM
Pediatr Radiol 2008 Sep;38(9):994-8. Epub 2008 May 14 doi: 10.1007/s00247-008-0877-y. PMID: 18478222

Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings.

Rösing B, Kempe A, Berg C, Kahl P, Knöpfle G, Gembruch U, Geipel A
Ultrasound Obstet Gynecol 2008 Apr;31(4):457-60. doi: 10.1002/uog.5285. PMID: 18383484

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies.

Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC
Am J Med Genet 1998 May 1;77(2):100-15. PMID: 9605284

See all (6)

Prognosis

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378 Free PMC Article

See all (1)