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Orofaciodigital syndrome 16(OFD16)

MedGen UID:
1620071
Concept ID:
C4539729
Disease or Syndrome
Synonyms: OFDS XVI; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI; OROFACIODIGITAL SYNDROME XVI
 
Gene (location): TMEM107 (17p13.1)
 
Monarch Initiative: MONDO:0033045
OMIM®: 617563

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Hamartoma of tongue
MedGen UID:
98465
Concept ID:
C0431565
Finding
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Molar tooth sign on MRI
MedGen UID:
400670
Concept ID:
C1865060
Finding
An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
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.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Retinal disorder
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

Professional guidelines

PubMed

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E
Orphanet J Rare Dis 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. PMID: 22236771Free PMC Article

Recent clinical studies

Etiology

Belengeanu V, Marian D, Hosszu T, Ogodescu AS, Belengeanu AD, Samoilă C, Freiman P, Lile IE
Rom J Morphol Embryol 2019;60(2):697-706. PMID: 31658347
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Tavil B, Korkmaz A, Bayhan T, Aytaç S, Unal S, Kuskonmaz B, Yigit S, Cetin M, Yurdakök M, Gumruk F
Blood Coagul Fibrinolysis 2016 Mar;27(2):163-8. doi: 10.1097/MBC.0000000000000403. PMID: 26829281
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group
Hum Mutat 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. PMID: 18546297

Diagnosis

Belengeanu V, Marian D, Hosszu T, Ogodescu AS, Belengeanu AD, Samoilă C, Freiman P, Lile IE
Rom J Morphol Embryol 2019;60(2):697-706. PMID: 31658347
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
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E
Orphanet J Rare Dis 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. PMID: 22236771Free PMC Article

Therapy

Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069

Prognosis

Ks A, Bansal A, Verma PK, Bhat NK
BMJ Case Rep 2023 Dec 30;16(12) doi: 10.1136/bcr-2022-253086. PMID: 38160027Free PMC Article
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
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M
Am J Med Genet A 2017 May;173(5):1383-1389. Epub 2017 Apr 3 doi: 10.1002/ajmg.a.38179. PMID: 28371265Free PMC Article
Tavil B, Korkmaz A, Bayhan T, Aytaç S, Unal S, Kuskonmaz B, Yigit S, Cetin M, Yurdakök M, Gumruk F
Blood Coagul Fibrinolysis 2016 Mar;27(2):163-8. doi: 10.1097/MBC.0000000000000403. PMID: 26829281
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772

Clinical prediction guides

Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A
Ophthalmic Genet 2024 Feb;45(1):95-102. Epub 2023 May 29 doi: 10.1080/13816810.2023.2215332. PMID: 37246745
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M
Am J Med Genet A 2017 May;173(5):1383-1389. Epub 2017 Apr 3 doi: 10.1002/ajmg.a.38179. PMID: 28371265Free PMC Article
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: 22619378Free PMC Article
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Guven MA, Ceylaner S, Prefumo F, Uzel M
Prenat Diagn 2004 Dec 15;24(12):989-91. doi: 10.1002/pd.916. PMID: 15614844

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