U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Café-au-lait macules with pulmonary stenosis(WTSN)

MedGen UID:
107817
Concept ID:
C0553586
Disease or Syndrome
Synonyms: Pulmonic stenosis with cafe-au-lait spots; Watson Syndrome; WTSN
SNOMED CT: Café-au-lait macules with pulmonary stenosis (403820003); Watson syndrome (403820003); Cafe-au-lait macules with pulmonary stenosis (403820003)
 
Gene (location): NF1 (17q11.2)
 
Monarch Initiative: MONDO:0008672
OMIM®: 193520
Orphanet: ORPHA3444

Definition

Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). [from OMIM]

Clinical features

From HPO
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Moderate global developmental delay
MedGen UID:
500807
Concept ID:
C2237142
Finding
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Inguinal freckling
MedGen UID:
320315
Concept ID:
C1834297
Finding
The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Axillary freckling
MedGen UID:
348082
Concept ID:
C1860335
Finding
The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Cafe au lait spots, multiple
MedGen UID:
396266
Concept ID:
C1861975
Disease or Syndrome
The presence of six or more cafe-au-lait spots.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..

Professional guidelines

PubMed

Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Recent clinical studies

Etiology

Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin SR
Genet Med 2021 Aug;23(8):1506-1513. Epub 2021 May 19 doi: 10.1038/s41436-021-01170-5. PMID: 34012067Free PMC Article
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2019-0660. PMID: 31010905
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P
Hum Mutat 2013 Nov;34(11):1510-8. Epub 2013 Aug 26 doi: 10.1002/humu.22392. PMID: 23913538

Diagnosis

Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N
Neurol Sci 2023 Jun;44(6):1931-1947. Epub 2023 Feb 24 doi: 10.1007/s10072-023-06680-5. PMID: 36826455
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2019-0660. PMID: 31010905
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515
Ferner RE, Gutmann DH
Handb Clin Neurol 2013;115:939-55. doi: 10.1016/B978-0-444-52902-2.00053-9. PMID: 23931823

Therapy

Brown R
Curr Oncol Rep 2023 Dec;25(12):1409-1417. Epub 2023 Oct 31 doi: 10.1007/s11912-023-01451-z. PMID: 37906356
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Gross AM, Wolters PL, Dombi E, Baldwin A, Whitcomb P, Fisher MJ, Weiss B, Kim A, Bornhorst M, Shah AC, Martin S, Roderick MC, Pichard DC, Carbonell A, Paul SM, Therrien J, Kapustina O, Heisey K, Clapp DW, Zhang C, Peer CJ, Figg WD, Smith M, Glod J, Blakeley JO, Steinberg SM, Venzon DJ, Doyle LA, Widemann BC
N Engl J Med 2020 Apr 9;382(15):1430-1442. Epub 2020 Mar 18 doi: 10.1056/NEJMoa1912735. PMID: 32187457Free PMC Article
Hirbe AC, Gutmann DH
Lancet Neurol 2014 Aug;13(8):834-43. doi: 10.1016/S1474-4422(14)70063-8. PMID: 25030515

Prognosis

Venugopal A, Chandran M, Eruppakotte N, Kizhakkillach S, Breezevilla SC, Vellingiri B
Mutat Res Rev Mutat Res 2018 Apr-Jun;776:23-31. Epub 2018 Mar 17 doi: 10.1016/j.mrrev.2018.03.003. PMID: 29807575
Dang JD, Cohen PR
Skinmed 2010 May-Jun;8(3):156-9. PMID: 21137621
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A
J Med Genet 2007 Feb;44(2):81-8. Epub 2006 Nov 14 doi: 10.1136/jmg.2006.045906. PMID: 17105749Free PMC Article
Frank-Stromborg M
Semin Oncol Nurs 1992 Nov;8(4):265-71. doi: 10.1016/0749-2081(92)90039-6. PMID: 1480857
Crawford AH
Acta Orthop Scand Suppl 1986;218:1-60. PMID: 3083645

Clinical prediction guides

Wang D, Zhang BH, Wen X, Chen KH, Xiao HT, Xu XW, Li QF
Eur Spine J 2024 Jul;33(7):2646-2665. Epub 2024 Mar 25 doi: 10.1007/s00586-024-08194-w. PMID: 38526628
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M
Hum Genomics 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. PMID: 28637487Free PMC Article
Pecoraro A, Arehart E, Gallentine W, Radtke R, Smith E, Pizoli C, Kansagra S, Abdelnour E, McLendon R, Mikati MA
Epilepsy Behav 2017 Aug;73:137-141. Epub 2017 Jul 18 doi: 10.1016/j.yebeh.2017.05.011. PMID: 28633092
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A
Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article
Reviron-Rabec L, Girerd B, Seferian A, Campbell K, Brosseau S, Bergot E, Humbert M, Zalcman G, Montani D
Rev Mal Respir 2016 Jun;33(6):460-73. Epub 2016 Feb 8 doi: 10.1016/j.rmr.2014.09.010. PMID: 26868668

Recent systematic reviews

Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C
Orphanet J Rare Dis 2023 Sep 14;18(1):292. doi: 10.1186/s13023-023-02911-2. PMID: 37710322Free PMC Article
Yousefi O, Saghebdoust S, Abdollahifard S, Motlagh MA, Farrokhi MR, Motiei-Langroudi R, Mousavi SR
World Neurosurg 2023 Dec;180:163-168.e7. Epub 2023 Sep 1 doi: 10.1016/j.wneu.2023.08.057. PMID: 37659751
Quach P, El Sherif R, Gomes J, Krewksi D
Neurotoxicology 2017 Jul;61:214-232. Epub 2016 May 17 doi: 10.1016/j.neuro.2016.05.009. PMID: 27212451
Tovmassian D, Abdul Razak M, London K
Int J Surg Oncol 2016;2016:6162182. Epub 2016 Dec 12 doi: 10.1155/2016/6162182. PMID: 28058117Free PMC Article
García-Romero MT, Parkin P, Lara-Corrales I
Pediatr Dermatol 2016 Jan-Feb;33(1):9-17. Epub 2015 Sep 4 doi: 10.1111/pde.12673. PMID: 26338194

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...